Objective To explore the correlation and significance of V312F locus polymorphism of PCSK9 gene in patients with coronary heart disease.Methods We selected 3560 patients with coronary heart disease who came to our hospital from January 2014 to January 2016 as the case group.They were divided into 5 subgroups:angina group,myocardial infarction group,silent myocardial ischemia group,ischemic cardiomyopathy group,and sudden death group,according to their anatomic and pathophysiological features.Data of 1 000 people for physical examination served as the control group.PCR assay combined with direct sequencing method was applied to test V312F locus polymorphism of PCSK9 gene.Logistic regression analysis was used to analyze relationship between V312F locus polymorphism of PCSK9 gene and types of coronary heart disease.The concentration of serum PCSK9 and lipids of the two groups were also measured.Results The serum levels of PCSK9,TC,TG and LDLC and ratio of positive family history in the case group were significantly higher than those in the control group,while the level of HDLC was lower than that of the controls (all P＜0.05).Indexes of sudden death subgroup in the case group showed the most significant changes,while asymptomatic myocardial ischemia subgroup showed the weakest changes.The frequency of genotype TT,GT and allele T in the case group was 3.4％,16.6％ and 11.7％,respectively,which was significantly higher than that in the control group (1.1％,10.2％ and 6.2％) (all P＜0.01).The highest frequency of genotype TT,GT and allele T was found in sudden death subgroup,and the lowest frequency of these indexes was found in asymptomatic myocardial ischemia subgroup (P＜0.05).Results of Logistic regression analysis showed that genotype TT in V312F locus of PCSK9 gene was related to the severity of coronary heart disease (OR =8.463,95％ CI from 3.505 to 17.854,P＜0.001).Conclusion The mutation of V312F (T/G)locus of PCSK9 gene might be related to the severity of coronary heart disease.

Objective To evaluate the correlations between CT features and histopathologic subtypes of lung adenocarcinomas presenting as pure ground-glass nodules (pGGN) of 1 cm or less in maximal diameter. Methods CT appearances, pathology and clinical data of 95 patients (97 lesions) who underwent curative resection of lung adenocarcinomas presenting as pGGN≤1 cm in diameter from March 2011 to February 2015 were retrospectively analyzed. Of the 97 lung adenocarcinomas, there were 19 atypical adenomatous hyperplasia (AAH) (19.6%), 31 adenocarcinoma in situ (AIS) (31.9%), 19 minimally invasive adenocarcinoma (MIA) (19.6%) and 28 invasive pulmonary adenocarcinoma (IPA) (28.9%). Fifty (51.5%) were preinvasive (AAH+AIS) and 47 (48.5%) were invasive (MIA+IPA). Lesion size and density were compared among pathologic subtypes using analysis of variance (ANOVA). Lesion size were compared between preinvasive and invasive lesions using 2?independent samples t?test. Lesion location, presence of bubble?like sign, air bronchogram, vessel changes, margin, and tumor?lung interface were compared among histopathologic subtypes using chi?square test. Receiver operating characteristic (ROC) curve analysis was performed to evaluate the cut-off point of size in discriminating preinvasive lesions from invasive lesions. Results Of the 97 lesions, there were no statistically significant differences among histopathologic subtypes in terms of lesion density, presence of bubble?like sign, air?bronchogram, and margin (P>0.05). Mean size of AAH, AIS, MIA and IPA was (0.72 ± 0.19), (0.82 ± 0.14), (0.84 ± 0.11) and (0.85 ± 0.16) cm respectively. There were statistically significant differences among histopathologic subtypes in terms of lesion size (F=3.16, P=0.028). The vessel changes occurred in 2 of AAH, 11 of AIS, 10 of MIA and 17 of IPA. There were statistically significant differences among histopathologic subtypes in terms of vessel changes (χ2=13.22, P=0.004). Lesions with clear tumor?lung interface were in 10 of AAH, 24 of AIS, 17 of MIA, and 26 of IPA. There were statistically significant differences among histopathologic subtypes in terms of tumor?lung interface (χ2=12.67, P=0.005). The optimal cutoff value of lesion size for differentiating preinvasive lesions from invasive lesions was 0.82 cm (sensitivity, 61.7%;specificity, 62.0%). Conclusion Lesion size, vessel changes, and lung?tumor interface may indicate the invasiveness of lung adenocarcinoma presenting as pGGNs of≤1 cm in diameter.

Objective To observe the changes of lipoprotein‐associated phospholipase A2(Lp‐PLA2) in patients with athero‐thrombosis acute ischemic stroke and the correlation of Lp‐PLA2 with cerebra infarction volume ,neurologic impairment and early prognosis .Methods A total of 104 patients with atherothrombosis acute ischemic stroke and 100 healthy people(controls) were collected .The levels of Lp‐PLA2 were detected by immunoturbidimetry .The cerebral infarction volume was checked by Cranial MRI or CT .The neurological impairment degree was assessed by National Institute of Health Stroke Scale (NIHSS) score .The early prognosis was assessed by Barthel index .The changes of serum Lp‐PLA2 levels in patients with different infarct volumes and neurologic impairment were compared ,the influence of early prognosis were analysised .Results The levels of serum Lp‐PLA2 in the patients with atherothrombosis ischemic stroke were significantly higher than those in control group (P<0 .05) ,and signifi‐cantly correlated with the levels of serum LDLC (r=0 .859 ,P<0 .05) .The levels of serum Lp‐PLA2 were significantly correlated with the increasing of cerebral infarction volume and cerebral neurological impairments (r=0 .531 ,P<0 .05 ;r=0 .623 ,P<0 .05) . The patients with higher level of Lp‐PLA2 has poor prognosis(P<0 .05) .Conclusion The level of Lp‐PLA2 was significantly higher in patients with atherothrombosis ischemic stroke and may reflect the severity and early prognosis in patients with athero‐thrombosis acute ischemic stroke .

Objective To analyze the value of abnormal air bronchogram for predicting the invasiveness of lung adenocarcinoma with pure ground-glass nodule (pGGN).Methods From April 2014 to February 2016,157 patients with 165 pGGN lung adenocarcinomas confirmed by surgical pathology were selected.There were 30 pre-invasive lesions (AAH+AIS),39 minimally invasive adenocarcinoma (MIA),and 96 invasive adenocarcinoma (IAC).CT characteristics including lesion size,density,abnormal air bronchogram were recorded.All lesions were divided into two groups:normal group (no air bronchogram or normal air bronchogram) and abnormal air bronchogram group.Chi-square test was used to analyze the difference of pathological subtypes between the two groups.Mann-Whitney rank test was used to analyze the size difference of pGGN between the two groups.Two-independent samples t-test was used to analyze the lesion density difference of pGGN between the two groups.Results Of the 165 lesions,85 were found to have air bronchogram,there were 12 lesions in 30 pre-invasive lesions (AAH+AIS),17 in 39 MIAs,56 in 96 IACs.Abnormal air bronchogram were demonstrated in 61 lesions which was 1 in 30 pre-invasive lesions (IACs+AIS),13 in 39 MIAs and 47 in 96 IACs,significant differences were found between two groups (x2=25.943,P＜0.01).The mean size of the IACs were (10.8±4.2) mm for normal group,(17.0±6.7) mm for abnormal air bronchogram group,the mean density were (-519± 118) HU and (-518± 124) HU,respectively.There was a significant difference in lesion diameter between two groups (Z=-6.197,P＜0.01),but not in density (t=-0.042,P=-0.966).Conclusions Abnormal air bronchogram can be used to predict the invasiveness of pGGN lung adenocarcinoma,and is correlated with lesion size,but not with density.

Objective To assess the association between three single nucleotide polymorphisms( SNPs) ( rs10878724、 rs7980829 and rs11177020 ) of lnc IFNG-AS1 and Hashimoto's thyroiditis ( HT) susceptibility. Methods TaqMan probe technology was used to genotype the selected SNPs in a total of 179 subjects, including 70 HT cases, and 109 controls. The expression levels of lnc IFNG-AS1 and IFNG were detected by SYBR-Green qRT-PCR. Results Compared with control, not only the A allele and AA genotype frequencies of rs10878724 were significantly different in group HT ( P=0. 01, P=0. 003), but also the T allele and TT genotype frequencies of rs7980829 were significantly high in group HT. Haplotype analysis showed that the G-G-A decreased the risk of HT (P=0.04), while the haplotype of A-T-T incresed the risk of HT( P=0.01). The relative expression of both IFNG mRNA and lnc IFNG-AS1 were higher in group HT than in control( P=0. 001,P=0. 013). In HT patients, IFNG mRNA relative expression in both rs7980829-TT and rs1087872-TT were significantly higher than those of other genotypes(P=0.017,P=0.009). Conclusion The SNPs of Inc IFNG-AS1 were correlated with the expression levels of IFNG and lncRNA IFNG-AS1. Noncoding genes should be further screened as potential biomarkers in prediction of HT susceptibility.

A new method of dissolution test was established to better simulate the in vivo dissolution behavior of drugs from preparations and to distinguish the quality difference between drug preparations. With flow-through cell being chosen to be the dissolution apparatus and nimodipine tablet to be the model drugs,this study developed,on the basis of IVIVC theory,a new dissolution method which was subsequently used to evaluate the dissolution con-sistency of domestically produced nimodipine tablet as test preparation and its reference preparation. Meanwhile, conventional four-dissolution-curves method based on paddle apparatus was selected for comparison to evaluate the efficiency of the new dissolution method. The results indicated that the new dissolution method not only had a good correlation with the in vivo process of drugs,but also could reveal the internal quality differences between pharmaceutical preparations effectively. This research will provide further theoretical support for the application of flow-through cell apparatus in IVIVC study.

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 introduce and evaluate the clinical effects of percutaneous reduction and Kirschner pin fixation for the treatment of intraarticular fractures of the calcaneus in children.

METHODSFrom March 2001 to February 2009,12 patients with intraarticular calcaneal fractures were treated by percutaneous reduction and Kirschner pin fixation (13 feet). There were 8 males and 4 females,ranging in age from 3 to 14,with an average of 8.7 years. According to Essex-Lopresti classification, among 5 feet were tongue fractures and 8 feet were compressed fractures. According to Sanders classification, 9 feet were type II and 4 feet were type III. The Biihler angle and Gissane angle of the calcaneus were obtained before and after operation. All patients were evaluated according to Maryland Foot Score.

RESULTSAll the patients were followed up for 16-71 months (means 35.9 months),and all the incisions were healed without complications and infection. The preoperative X-ray film showed that Böhler angle was (19.7+/-5.3) degrees, Gissane angle was (137.3+/-7.5) degrees. The postoperative X-ray film demonstrated that Böhler angle was (32.6+/-3.7) degrees, Gissane angle was (125.4+/-2.9) degrees. There was a significant difference between preoperative and postoperative (P<0.01). The average Maryland score was 96.3+/-2.4 (range, 92 to 100 points).

CONCLUSIONPercutaneous reduction and Kirschner pin fixation is an effective minimally invasive way to treat intraarticular fractures of the calcaneus in children, it has many advantages such as minimal invasion, reliable fixation and satisfactory effects.

Adolescent ; Bone Nails ; Calcaneus ; injuries ; surgery ; Child ; Child, Preschool ; Female ; Fracture Fixation, Internal ; methods ; Humans ; Intra-Articular Fractures ; surgery ; Male

OBJECTIVETo study the clinical effects of AO distal humerus plate (DHP) for the treatment of distal humeral fractures in elderly osteoporotic patients.

METHODSFrom September 2008 to January 2010, 18 elderly osteoporotic patients with distal humeral fractures were treated with open reduction and internal fixation with DHP. There were 3 males and 15 females, ranging in age from 62 to 83 years (averaged, 71.4 years). According to AO classification, 1 patient was Type A2, 3 patients were Type A3; 2 patients were Type B1, 2 patients were Type B2; 3 patients were Type C1, 4 patients were Type C2, 3 patients were Type C3. The surgical approaches were either bilateral or via olecranon process of ulna. Early mobilization was initiated after surgery. Functional results were evaluated according to the Mayo elbow performance score (MEPS).

RESULTSThe average duration of follow-up was 14.6 months (ranged from 11 to 24 months). All the patients had a complete healing of their fractures. There was no infection, hardware failure or loss of reduction after the operations. The average Mayo elbow performance score (MEPS) was (92.2 +/- 9.6) (65 to 100 points), among which the score of pain was (42.5 +/- 5.8) (30 to 45 points), the score of motion range was (19.2 +/- 1.9) (15 to 20 points), the score of stability was (9.2 +/- 1.9) (5 to 10 points), and the score of function was (21.4 +/- 2.9) (15 to 25 points). According to MEPS, 11 patients got excellent results, 5 good and 2 fair.

CONCLUSIONTreatment of distal humeral fractures in elderly osteoporotic patients with AO distal humeral plates can obtain immediate stabilization which facilitates early mobilization of the elbow.

Aged ; Aged, 80 and over ; Bone Plates ; Female ; Fracture Fixation, Internal ; methods ; Humans ; Humeral Fractures ; surgery ; Male ; Middle Aged ; Osteoporotic Fractures ; surgery