Objective To assess the predictive value of plasma level of calcitonin gene related peptide for cardiovascular events and operational stent restenosis after coronary stent implantation in 6 months.Methods Plasma level of CGRP was measured in 53 cases of coronary stent implantation before and after the operation.The cardiovascular events and the stent restenosis were observed and recorded in 6 months after the procedure.Results The plasma level of CGRP was significantly lower in patients with cardiovascular events and stent restenosis(166.36?10.18,182.5?11.36,P

Objective To explore the relationship between the types of female breast density and age and breast cancer .Methods By accepting the digital mammography X -ray examination for 5 006 women cases and according to the ACR BI -RADS standard in the fourth edition ,the breast density assessment was quantified . We analysed the relationship between the breast density and age and breast cancer .Results In 5 006 cases,the average female age was between 44.22 ±8.09 years old,median age was 43 years old.The components of the breast density were fat type , small amount type , large amount type and compact type each count were 256 (5.11%),726(14.51%),3 719(74.29%),305(6.09%)respectively.By dividing into different age -group to analyze the breast density,there was significant statistical differences of the breast density among age -groups(P<0.001).Among them the breast cancer were 184 cases.Age was between 51.26 ±10.15 years old.Breast cancer in each breast density were fat type 10.16%(26/256),small amount type 9.09%(66/726),large a-mount type 2.45%(91/3719)and compact type 0.33%(1/305).There were statistical differences among age -groups and breast densities and breast (P<0.001).Conclusion Age plays a very important effects on the fe-male breast density .The lower breast density is a high risk factor to breast cancer occurrence .

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.

Objective To investigate the clinical value of high-frequency ultrasound in the diagnosis of pronator teres syndrome (PTS). Methods The high-frequency ultrasound was employed to examine and measure the median nerve of the pronator teres muscle in 30 patients with PTS and 30 healthy volunteers (control group).The long-axis diameter (LA),short-axis diameter (SA) and cross-sectional area (CSA) of the median nerve were measured.The receiver operating characteristic curve of the median nerve ultrasonic measurement results was established,and the area under the curve (AUC) was calculated.The diagnostic efficiency of each index for PTS was compared with the surgical results as a reference. Results The PTS group showed larger LA[(5.02±0.50) mm vs.(3.89±0.41) mm;t=4.38,P=0.013],SA[(2.55±0.46) mm vs.(1.70±0.41) mm;t=5.19,P=0.009],and CSA[(11.13±3.72) mm² vs.(6.88±2.68) mm²;t=8.42,P=0.008] of the median nerve than the control group.The AUC of CSA,SA,and LA was 94.3% (95%CI=0.912-0.972,Z=3.586,P=0.001),77.7% (95%CI=0.734-0.815,Z=2.855, P=0.006),and 78.8% (95%CI=0.752-0.821,Z=3.091,P=0.004),respectively.With 8.63 mm² as the cutoff value,the sensitivity and specificity of CSA in diagnosing PTS were 93.3% and 90.0%,respectively. Conclusion High-frequency ultrasound is a practical method for diagnosing PTS,and the CSA of median nerve has a high diagnostic value.
Humans ; Forearm/innervation* ; Muscle, Skeletal/innervation* ; Median Nerve/diagnostic imaging* ; Ultrasonography/methods* ; Sensitivity and Specificity

The medicinal and edible Polygonatum cyrtonema is one of the original species of Polygonati Rhizoma. In this study,HPLC fingerprints for 25 batches of P. cyrtonema from 6 provinces were established. A total of 14 common peaks were identified and the similarities of the fingerprints were in the range of 0. 939-0. 999. In additon, the partial least squares-discriminant analysis(PLSDA) demonstrated that the samples had low discriminability except for JX-1 and most components of them had no significant correlation with environmental factors such as longitude, latitude, and altitude. Thus, chemical composition specificity of P. cyrtonema in natural distribution areas had no obvious regularity and their variation might be induced by the local environment. This conclusion explained the lack of records about Dao-di area of Polygonati Rhizoma. However, JX-1 boasted significantly higher content of 5-hydroxymethylfurfural(HMF) and 4',5,7-trihydroxy-6,8-dimethylhomoisoflavone( HIF), thick and long inflorescence and rhizome, and extremely high yield. Therefore, excellent variety of P. cyrtonema might have great potential to improve the quality and yield of Polygonati Rhizoma. Moreover, three components of HMF, polygonalline A(PA), and HIF were identified in the fingerprint. Among them, HMF has the activities of blood rheology improvement, antioxidation, and anti-myocardial ischemia and PA is an indolizine alkaloid with potential anti-inflammatory activity. HIF, the characteristic homoisoflavone in Polygonatum, has the pharmacological activities of regulating blood glucose and anti-tumor. A quantitative analysis method can provide a theoretical basis for the improvement of the quality evaluation of Polygonati Rhizoma.
Antioxidants ; Chromatography, High Pressure Liquid ; Polygonatum ; Rhizome

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

Objective: To investigate the expression level of antisense transcript of pseudogene, general transcription factor Ⅱi psedugen23 (GTF2IP23), in breast cancer and its effect on the host gene general transcription factor Ⅱi (GTF2I). Methods: The expressions of GTF2IP23 and GTF2I were detected in 40 cases of invasive breast cancer tumors and their counterparts by using quantitative real-time polymerase chain reaction (qRT-PCR). The effects of GTF2IP23 on the expression of GTF2I gene and cell proliferation and migration were analyzed by overexpression of GTF2IP23 in breast cancer cells. Results: The expression of GTF2IP23 mRNA in breast cancer tissues was significantly higher than that in adjacent tissues (P<0.001), while the expression of GTF2I mRNA was significantly lower than that in adjacent tissues (P=0.007). The expression of GTF2IP23 was negatively correlated with GTF2I (r=-0.335, P=0.025). The expression of GTF2IP23 in breast cancer cells was significantly higher than in normal breast cells (P<0.01), while GTF2I expression in breast cancer cells was significantly lower than that in normal breast cells (P<0.01). Overexpression of GTF2IP23 in ZR-75-30 cells significantly reduced the expression of GTF2I (P=0.034) and enhanced cell proliferation (P=0.017) and migration (P=0.026) capacity. Conclusions GTF2IP23 is distinctly upregulated in breast cancer, it inhibits the expression of real gene GTF2I and promotes the proliferation of breast cancer cells.

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.