Phenotypic and genotypic analysis of a pedigree affected with hereditary protein C deficiency / 中华医学遗传学杂志

OBJECTIVE@#To analyze the phenotype and genetic variant in a pedigree affected with inherited protein C (PC) deficiency.@*METHODS@#The proband and her family members (7 individuals from 3 generations) were tested for plasma protein C activity (PC:A), protein C antigen (PC:Ag) content and other coagulation indicators. All of the 9 exons and flanking sequences of the proband's PROC gene were amplified by PCR and sequenced. Suspected variants were verified by reverse sequencing of the proband and her family members. Bioinformatic software was used to analyze the pathogenicity and conservation of the variant site. Swiss-PdbViewer was used to analyze the three-dimensional model and the interaction with the mutant amino acid.@*RESULTS@#The PC:A and PC:Ag of the proband, her grandmother, father and elder brother were decreased to 55%, 52%, 48%, 51% and 53%, 55%, 50%, 56%, respectively. Genetic analysis showed that the four individuals have all carried heterozygous c.1318C>T (p.Arg398Cys) missense mutation in exon 9 of the PROC gene. The score of MutationTaster was 0.991, PROVEAN was -3.72, and FATHMM was -2.49, all predicted it to be a harmful mutation. Phylogenetic analysis also showed that Arg398 was weakly conservative among homologous species. Protein model analysis showed that, in the wild type, Arg398 can form a hydrogen bond with Glu341 and Lys395 respectively, when it was mutated to Cys398, the hydrogen bond with Glu341 disappears and an additional hydrogen bond was formed with Lys395, which has changed the spatial structure of the protein.@*CONCLUSION@#The heterozygous missense mutation c.1318C>T (p.Arg398Cys) of the PROC gene probably underlay the decreased PC:A and PC:Ag in this pedigree.

A case of inherited afibrinogenemia caused by an IVS7-12A>G splice mutation of FGG gene / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with inherited afibrinogenemia.@*METHODS@#For the proband and his family members, prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT), Fibrin(ogen) degradation products (FDPs), D-dimer (D-D), plasminogen activity (PLG:A) and the TT mixed experiment with protamine sulfate were determined with a STAGO-R automatic coagulation analyzer. The activity and antigen of fibrinogen (Fg) in plasma were measured with the Clauss method and immunonephelometry method, respectively. All exons and flanking regions of the fibrinogen genes (FGA, FGB and FGG) were amplified by PCR and directly sequenced. Human Splicing Finder software was used to predict and score the change of splicing site caused by the mutation.@*RESULTS@#The proband showed normal FDPs and D-D but significantly prolonged TT, PT and APTT. The activity and antigen of fibrinogen in plasma were significantly decreased (G (g.4147A>G) mutations of the FGG gene, for which his parents and young sister were heterozygous. As predicted by Human Splicing Finder and Mutation Taster software, the variant may generate a new splicing site which can extend the sequence of exon 7 by 11 bp, with alteration of the coding sequence. PROVEAN suggested the variant to be deleterious.@*CONCLUSION@#The afibrinogenemia of the proband may be attributed to the FGG IVS7-12A>G variant, which was unreported previously.

Clinical and genetic analysis of a pedigree affected with type I hereditary antithrombin deficiency due to a g.2736dupT variant of the AT gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the phenotype and genotype of a patient affected with inherited antithrombin deficiency.@*METHODS@#All exons and exon-intron boundaries of the AT genes were subjected to PCR amplification and Sanger sequencing. The influence of variants on the disease was predicted using bioinformatic software (MutationTaster).@*RESULTS@#The results of all coagulation tests were normal, though the antithrombin activity and antigen content of the proband and his father have decreased significantly (34%, 48% and 12.97 mg/dL, 15.60 mg/dL, respectively). His mother was normal. Genetic analysis revealed that the proband and his father both carried a heterozygous g.2736dupT variant of the AT gene. Bioinformatic analysis suggested that the variant may be pathogenic.@*CONCLUSION@#The proband and his father both had type I hereditary antithrombin deficiency caused by a g.2736dupT variant of the AT gene. The variant was unreported previously.

Analysis of a pedigree affected with congenital dysfibrinogenemia due to a novel Gly31Glu mutation of FGA gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the phenotype and genotype of a pedigree affected with congenital dysfibrinogenemia.@*METHODS@#Liver and kidney functions of the proband and her relatives were determined. Coagulation tests including prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time(TT), fibrin(ogen) degradation products (FDPs), D-dimer(D-D) and the calibration experiment of protamine sulfate of against plasma TT were detected in the proband and her predigree members. The activity and antigen of fibrinogen (Fg) in plasma were measured by Clauss method and immunonephelometry method, respectively. All of the exons and exons-intron boundaries of the three fibrinogen genes (FGA, FGB and FGG) were subjected to PCR amplification and Sanger sequencing. Potential influence of the suspected mutations were analyzed with bioinformatics software including PolyPhen-2, SIFT and Mutation Taster.@*RESULTS@#The proband had normal PT, APTT, FDPs, D-D and prolonged TT (31.8 s). The activity of fibrinogen (Fg) in plasma was significantly decreased but the antigen was normal. Genetic analysis revealed a heterozygous c.92G>A (p.Gly31Glu) mutation in exon 2 of the FGA gene. Family studies revealed that the mother carried the same mutation. Bioinformatic analysis suggested that the mutation may affect the function of Fg Protein.@*CONCLUSION@#The dysfibrinogenemia was probably caused by the novel Gly31Glu mutation of the FGA gene.

Analysis of a pedigree affected with congenital dysfibrinogenemia due to a novel Gly31Glu mutation of FGA gene / 中华医学遗传学杂志

Objective@#To analyze the phenotype and genotype of a pedigree affected with congenital dysfibrinogenemia.@*Methods@#Liver and kidney functions of the proband and her relatives were determined. Coagulation tests including prothrombin time (PT), activated partial thromboplastin time (APTT) and thrombin time(TT), fibrin(ogen) degradation products (FDPs), D-dimer(D-D) and the calibration experiment of protamine sulfate of against plasma TT were detected in the proband and her predigree members. The activity and antigen of fibrinogen (Fg) in plasma were measured by Clauss method and immunonephelometry method, respectively. All of the exons and exons-intron boundaries of the three fibrinogen genes (FGA, FGB and FGG) were subjected to PCR amplification and Sanger sequencing. Potential influence of the suspected mutations were analyzed with bioinformatics software including PolyPhen-2, SIFT and Mutation Taster.@*Results@#The proband had normal PT, APTT, FDPs, D-D and prolonged TT (31.8 s). The activity of fibrinogen (Fg) in plasma was significantly decreased but the antigen was normal. Genetic analysis revealed a heterozygous c. 92G>A (p.Gly31Glu) mutation in exon 2 of the FGA gene. Family studies revealed that the mother carried the same mutation. Bioinformatic analysis suggested that the mutation may affect the function of Fg Protein.@*Conclusion@#The dysfibrinogenemia was probably caused by the novel Gly31Glu mutation of the FGA gene.

Clinical and genotypic analysis of two Chinese pedigrees affected with hereditary coagulable factor VII deficiency / 中华医学遗传学杂志

OBJECTIVE@#To explore molecular etiology and clinical characteristics of two pedigrees affected with hereditary factor VII(FVII) deficiency.@*METHODS@#The nine exons and flanking sequences of the F7 gene of the probands were amplified by PCR. The amplicons were analyzed by direct sequencing. Suspected mutations were subjected to SWISS-MODEL modeling and analysis of protein structure change by Pymol software and conservation of amino acids across various species.@*RESULTS@#For proband of pedigree 1, the prothrombin time (PT), FVII activity (FVII:C) and FVII antigen (FVII:Ag) were 36.3 s, 3%, 53.56%, respectively. Sequencing revealed a compound heterozygous variants of c.80_81delCT and c.1371G>T(p.Arg439Ser). His son carried a heterozygous c.1371G>T (p.Arg439Ser) variant. For proband of pedigree 2, the PT, FVII:C and FVII:Ag were 22.3 s, 4%, 1.58%, respectively. Sequencing has revealed a compound heterozygous c.278G>T(p.Arg75Met) missense variant in exon 3 and c.1278T>G (p.His408Gln) in exon 9 of the F7 gene. His mother and son both carried a heterozygous c.278G>T(p.Arg75Met) variant. Three-dimensional simulation and homology analysis revealed that the p.Arg439Ser and p.Arg75Met can respectively alter part of hydrogen bonds and two highly conserved amino acids.@*CONCLUSION@#Two novel heterozygous missense variants of the F7 gene [c.1371G>T(p.Arg439Ser) and c.278G>T(p.Arg75Met)] probably account for the decrease of factor VII in the two pedigrees.

Identification of compound heterozygous mutations p.Gly400Val and p.Arg532Ter of the F11 gene in a Chinese patient with hereditary factor XI deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To investigate the phenotype and genotype defect characteristics of a Chinese patient with hereditary factor XI deficiency.</p><p><b>METHODS</b>The activated partial thromboplastin time (APTT), prothrombin time (PT), FXI activity (FXI:C) of the proband and his relatives were measured by a clotting method using automatic coagulation analyzer. FXI antigen (FXI:Ag) was assayed by enzyme-linked immunosorbent assay (ELISA). Fifteen exons of the F11 gene were amplified by PCR and sequenced. Pymol software was used to analyze the novel mutations.</p><p><b>RESULTS</b>The APTT of the proband was significantly prolonged (70.3 s, reference 34.5 s) with decreased FXI activity (6%, reference 50%-150%) and FXI antigen (1.9%, reference 50%-150%). The FXI activity and FXI antigen of his son was 31% and 39%, respectively. Two heterozygous F11 mutations were identified in the proband, which included a G to T substitution at nucleotide 1296 in exon 11 resulting in substitution of glycine by valine at codon 400 (p.Gly400Val) and a A to T substitution at nucleotide 1691 in exon 14 resulting in substitution of arginine (AGA) by a termination codon (TGA) at codon 532 (p.Arg532Ter). Analysis using Pymol indicated that the number of hydrogen bonds has changed, which led to a transformation of the structure of the FXI protein. The son of the proband was found to be heterozygous for the c.1296G to T (p.Gly400Val) mutation. NM_13142 c.1691A to T (p.Arg532Ter) is a novel mutation based on HGMD professional 2016.4. Based on 2015 Guidelines of ACMG, it is PVS1 (very strong pathogenicity).</p><p><b>CONCLUSION</b>The compound heterozygous mutations of F11 NM_13142 c.1296G to T (p.Gly400Val) and F11 NM_13142 c.1691A to T(p.Arg532Ter) probably underlies the FXI deficiency in the proband.</p>

Genotypic and phenotypic analysis of a case with inherited coagulation factor X deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To explore the correlation between F10 gene mutation and its phenotype in a Chinese pedigree affected with FX deficiency.</p><p><b>METHODS</b>Prothrombin time(PT), activated partial thromboplastin time(APTT), fibrinogen, FII activity(FII:C), FVII activity(FVII:C), FIX activity (FIX:C), FX activity(FX:C) were determined with a one-stage clotting assay. The FX antigen(FX:Ag) was detected with an enzyme linked immunosorbent assay(ELISA). The 8 exons, introns and 5' and 3' untranslated regions(UTR) of the F10 gene of the proband and her family members were subjected to PCR amplification and Sanger sequencing. Suspected mutation was confirmed by reverse sequencing. Polymorphisms were excluded by direct sequencing of 100 healthy individuals.</p><p><b>RESULTS</b>The PT and APTT of the proband have prolonged to 16.1 s and 49.0 s, respectively. Her FX:C and FX:Ag were reduced by 27% and 56%, and her mother's PT, APTT, FX:C and FX:Ag were 14.8 s, 37.4 s, 44%, 34%, respectively. Her grandmother's PT, APTT, FX:C and FX:Ag were 15.8 s, 42.2 s, 31%, 45%, respectively. The results of her father and other family members were all within the normal range. Genetic analysis has revealed a heterozygous G to A mutation in the proband at position 28076 in exon 8 of the F10 gene, which resulted in a p.Gly363Ser substitution. The same mutation was also found in her mother and grandmother. No mutation of the F10 gene was found in her father. Gly363Ser may result in changes in the secondary structure of the FX protein and reduction of its activity.</p><p><b>CONCLUSION</b>The g.28076G to A(p.Gly363Ser) mutation of the F10 gene probably underlies the FX deficiency in this pedigree. The mutation was discovered for the first time in Chinese patients.</p>

Phenotypic and genetic analysis of two pedigrees affected with hereditary coagulation FXII deficiency / 中华医学遗传学杂志

OBJECTIVE@#To carry out phenotypic and genotypic analysis for two Chinese pedigrees affected with coagulation factor XII (F XII) deficiency.@*METHODS@#Plasma prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen (FIB), thrombin time (TT), and blood coagulation factor VIII, IX, XI, XII activity (FVIII:C, FIX:C, FXI:C, FXII:C) were determined with one stage clotting assay on a STAGO coagulation analyzer. FXII antigen was determined with an enzyme linked immunosorbent assay (ELISA). The 14 exons and their flanking sequences of the F12 gene were subjected to PCR amplification and Sanger sequencing. The conservation and structure of mutant protein were analyzed with MegAlign software and PYMOL software.@*RESULTS@#The APTT of the probands was significantly prolonged, while their FXII:C and FXII:Ag were significantly reduced. Genetic analysis of the proband has revealed three novel mutations in the F12 gene, including g.5972G>A splice site mutation in intron 5, g.8810_8814delGTCTA in exon 14, and g.6259G>A (p.Pro182Leu) in exon 7. In addition, a previously known mutation IVS13-1G>A has been found.@*CONCLUSION@#Four mutations have been identified in the two Chinese pedigrees, among which three were novel. Above mutations probably played a role in the defect of FXII in the two pedigrees.

Effect of apigenin on the multidrug resistant breast cancer cell line MCF-7/ADR / 中国癌症杂志

Background and purpose: Multidrug resistance of tumor cells is the main factor for the failure of chemotherapy. It is found that the apigenin has the anti-tumor effect, but its role in multidrug resistant cells was rarely reported. This study aimed to investigate the effect of apigenin on multidrug resistant breast cancer cell line MCF-7/ADR, and to explore the role of apigenin in reversing multidrug resistance. Methods: The MCF-7/ADR cells were cultured with different concentrations of apigenin, and the same cells were cultured with ADR in the control group. Thecell proliferation was detected by MTT, the cell cycle distribution was detected by PI, and the cell apoptosis was detect-ed by Annexin V/PI. The drug sensitivity in vitro was detected by the method of MTT, and the drug retention rate was detected by rhodamine 123 accumulation. The expression of P-gp protein was measured by Western blot, the RT-PCR method was used to detect the transcription of multidrug resistance gene MDR1. Results: The MCF-7/ADR cell prolif-eration was inhibited by the apigenin, the cell cycle progression was blocked by the apigenin, and the cell apoptosis was induced by the apigenin. There were significant differences between the apigenin group and the ADR group (P<0.05). The IC50 of ADR on MCF-7/ADR cell was (12.37±0.18) μg/mL with the apigenin effect, while the IC50 of ADR on MCF-7/ADR cell was (39.83±0.29) μg/mL without the apigenin effect (P<0.05). The reversal index was 3.22. The retention rate of rhodamine 123 in MCF-7/ADR cells in the apigenin group was higher than that in the ADR group. The MDR1 gene transcription level in MCF-7/ADR cells was higher than that in the MCF-7 cells, and the P-gp expression in MCF-7/ADR cells was higher than that in the MCF-7 cells. However, the level of MDR1 gene transcription and P-gp expression were down-regulated by the apigenin in the MCF-7/ADR cells. Conclusion: The apigenin had anti-MCF-7/ADR effect, and played the role of reversing multidrug resistance in the MCF-7/ADR cells. The mechanism may be related to down-regulation of the MDR1 gene transcription and the P-gp mediated drug e?ux function.

Effect of Bushen Huoxue Tongluo Recipe on type 2 diabetes mellitus complicated with hypertension / 中国生化药物杂志

Objective To study the clinical efficacy of Bushen Huoxue Tongluo Recipe in the treatment of type 2 diabetes with hypertension, to provide more basis for clinical treatment.Methods64 patients with type 2 diabetes mellitus complicated with hypertension were selected in our hospital from July 2014 to November 2015.They were divided into two groups, each group was 32.The control group was treated with western medicine, the observation group was treated with Bushen Huoxue Tongluo recipe, and the therapeutic effects of the two groups were observed and compared.ResultsThe total effective rate of the two groups has significantly difference, and the incidence of complications of the two groups also has statistical difference (P<0.05).ConclusionThe treatment of Bushen Huoxue Tongluo recipein in type 2 diabetes with hypertension, has good effect, was very useful to change symptoms of patients, improve the clinical treatment effect of patients.It is conducive to the recovery of patient.

Determination of fatty acids in blood, placenta and umbilical cord blood in normal pregnant women / 临床儿科杂志

Objectives To explore the nutritional status of fatty acids in the newborn and their mother, and the role of the placenta in fetal nutrition. Methods The composition of fatty acids in blood, placenta, and neonatal umbilical cord blood were determined and analyzed by gas chromatography in 20 normal pregnant women. Results In 20 pregnant women in the study, average age was 27.0±4.5 years, the average gestational age of their newborns was 38.0±3.0 weeks, the average birth weight of newborns was 3320±127 g. There were 18 types of fatty acids in maternal blood, umbilical cord and placenta, including saturated fatty acids, monounsaturated fatty acids, and polyunsaturated fatty acids. The total fatty acid content in maternal blood (3.51±0.57 g/L) was 5 times higher than that in umbilical cord blood (0.74±0.18 g/L), and there was statistically difference (P<0.05). The content of linoleic acid (LA) in maternal blood was higher than that in umbilical cord blood and placenta; the content of arachidonic acid (AA) and docosahexenoic acid (DHA) in placenta was significantly higher than that in maternal blood and umbilical cord blood; and the content of eicosapentaenoic acid (EPA) in umbilical cord blood was higher than that in maternal blood and placenta. All differences were significant (P<0.05). Conclusions Mothers preferentially transport long chain polyunsaturated fatty acids (AA and DHA) through the placenta to meet the needs of fetal and neonatal growth and development.

Effect of high iodine traditionalChinese medicine on serum VB12, Hcy and thyroid function in patients with subclinical hypothyroidism / 中国生化药物杂志

Objective To investigate the effect of high iodine traditional Chinese medicine in the treatment of subclinical hypothyroidism in serum VB12,Hcy and thyroid function.Methods 84 patients of subclinical hypothyroidism from August 2014 to May 2016 in our hospital randomly divided into two groups,the control group of 42 cases were treated with levothyroxine sodium tablets treatment,42 cases in the experimental group received more with high iodine traditional Chinese medicine.The changes of serum VB12,Hcy and thyroid function were observed before and after treatment in two groups. Results Compared with before treatment, levels of blood lipid,Hcy and TSH in two groups significantly decreased,levels of VB12 increased(P<0.05);compared with the control group after treatment,levels of blood lipid,Hcy and TSH in experimental group were significantly lower than the control group, the level of VB12 was higher than the control group,the differences were statistically significant (P <0.05).Conclusion High iodine can effectively reduce blood lipids in patients with subclinical hypothyroidism,levels of Hcy and TSH in pregnancy,increased the levels of VB12,which has good clinical curative effect.

Clinical and genetic analysis of 8 Chinese pedigrees with inherited dysfibrinogenemia / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze clinical manifestation and genetic mutations in 8 Chinese pedigrees featuring hereditary dysfibrinogenemia.</p><p><b>METHODS</b>Prothrombin time(PT), activated partial thromboplastin time(APTT), thrombin time(TT), calibration of plasma protamine sulfate against TT, fibrinogen (Fg) activity, coagulation factors II, V, VII, VIII, IX, X, XI and XII of all probands and their family members were detected with an automatic blood coagulation analyzer; D-dimer(D-D) and fibrin(ogen) degradation products(FDPs) were also dtected by automatic blood coagulation analyzer, Fg antigen were detected with an immunoturbidimetry method. Exons of fibrinogen genes FGA, FGB and FGG and flanking sequences were amplified by polymerase chain reaction(PCR) and sequenced.</p><p><b>RESULTS</b>All of the probands showed normal levels of FDPs, D-dimer(D-D) and activity of coagulation factor II,V,VII, VIII, IX,X,XI, XII. Plasma PT and APTT were normal or slightly prolonged. Prolonged TT was found in all of the probands, whilst TT was not significantly shortened by protamine sulfate. Fg antigen was within the normal range, but Fg activity was significantly decreased. The Fg antigen/activity ratio was greater than 2. One proband has carried a heterozygous variant of the FGA gene g.1233G>A(p.A α Arg35His). Four have carried a heterozygous mutation of the FGB gene g.9692A>G(p.Bβ Asn190Ser). The remaining 3 had heterozygous substitution of FGG gene g.10819G>A(p.γ Arg301His). In addition, 2 polymorphisms (p.A α Thr331Ala) and p.B β Arg478Lys) were identified in FGA and FGB genes.</p><p><b>CONCLUSION</b>p.A α Arg35His, p.B β Asn190Ser and p. γ Arg301His are responsible for the inherited dysfibrinogenemia in the 8 Chinese pedigrees. p.B β Asn190Ser is firstly reported in China. p.B β Asn190Ser and p. γ Arg301His may be mutation hot spot in the Chinese population.</p>

Levels of serum IL-4, IFN-gamma, IL-32 in children with juvenile-onset recurrent respiratory papillomatosis / 临床耳鼻咽喉头颈外科杂志

OBJECTIVE@#To explore the relationship between serum IL-4, IFN-gamma, IL-10 levels and the aetiology of juvenile-onset recurrent respiratory papillomatosis.@*METHOD@#Serum IL-4, IFN-gamma, IL-32 levels of 15 JORRP children were detected by use of enzyme-linked immunosorbent assay (ELISA) and compared with those of healthy control group.@*RESULT@#Serum IL-4 levels were significantly higher in the JORRP children (P<0.01): (524.65 +/- 147.77)pg/ml in the JORRP children and (213.27 +/- 87.48) pg/ml in the healthy control group. Serum IFN-gamma levels were significantly lower in the JORRP children (P<0.01): (2.87 +/- 0.84) pg/ml in the JORRP children and (10.63 +/- 5.09) pg/ml in the healthy control group. Serum IL-32 levels were significantly lower in the JORRP children (P< 0.01): (2.47 +/- 1.60) pg/ml in the JORRP children and (9.08 +/- 2.66) pg/ml in the healthy control group.@*CONCLUSION@#1) While the concentration of Th2 like cytokine IL-4 in children with JORRP was higher than that in control group, the concentration of Th1 like cytokine IFN-gamma in children with JORRP was lower than that in controls, indicating that the polarization of Th1 /Th2 T cell in children with JORRP; 2) The polarization of Th1/Th2 T cell may cause the reduction of the serum IL-32 as a proinflammatory role in host immunity system that could not eradicate HPVs because of lacking enough inflammatory stimulation.

The significance of peripheral blood CK19 mRNA expression in breast cancer patients / 中华普通外科杂志

ObjectiveTo evaluate the significance of CK19 mRNA monitoring in peripheral blood of breast cancer patients.MethodsPeripheral blood samples were collected from 137 breast cancer patients preoperatively,one day post-operation,7 days,1,3,6,12,18,and 24 months after operation.RTPCR was used to detect CK19 mRNA expression.The relationships were analyzed between CK19 mRNA expression and treatment result, between CK19 mRNA expression and clinicopathological parameters.ResultsThere was no significant difference between the level of CK19 mRNA as tested preoperatively,and 1,7 days postoperatively(P ＞ 0.05 ).From one month and thereafter,CK 19 mRNA decreased significantly when compared with that immediate perioperatives ( P ＜ 0.05 ). Postoperative peripheral CK19 mRNA expression increased in those found with recurrent or metastasized tumors ( P ＜ 0.01 ). CK19 mRNA expression does not correlate with patient's menstrual status,estrogen receptor expression,progesterone receptor expression,HER-2 expression and Ki67 proliferation expression (P ＞ 0.05 ). But there was statistically significant correlation between CK19 mRNA expression and tumour size,histology grading,pathological type,lymph node metastasis ( P ＜ 0.01 ).ConclusionsIn breast cancer patients peripheral blood CK19 mRNA expression is correlated with risk clinicopathological parameters, and increases in patients with postoperative recurrence and tumor metastasis.

Fatty acid composition of human breast milk in Shanghai and Chongqing of China / 临床儿科杂志

Objective Since there are significant variation of the dietary structure recent years in China,it is necessary to re-investigate the fatty acid composition of human breast milk for the presentation of the latest data of fatty acid composition in China. Methods Using a gas chromatography GC-2010,the composition of fatty acids was detected in the human colostrums and the mature breast milk(consecutively from postnatal day 1 to day 7 and from postnatal day 42)obtained from 62 healthy postpartum women in Shanghai and Chongqing,two big cities of China,from Jan to July,2008. Results The level of total fatty acid(TFA)tended to increase significantly from the colostrums to the mature breast milk. No significant difference in the level of TFA was found between two cities. The significantly higher monounsaturates(MUFA)level(44.06% vs. 33.85%,P ＜ 0.01)and lower linoleic acid(LA,C18 : 2n-6)level(18.43% vs. 27.62%,P ＜ 0.01)of the mature breast milk were observed in Chongqing women compared with those in Shanghai women. The docosahexenoic acid(DHA)level of the mature breast milk in Shanghai women was significantly higher than that in Chongqing women(0.41% vs. 0.29%,P ＜ 0.01). There was no significant difference in the level of arachidonic acid(AA,C20 : 4n-6)between two cities. Conclusions The fatty acid composition in human breast milk tends to vary with the extension of the lactation. There is significant difference in the fatty acid compositions in human breast milk between Shanghai and Chongqing owing to different dietary habits in the different regions of China.

Bone nutritional status in neonates and their mothers / 中华围产医学杂志

Objective To investigate bone nutritional status of neonates and their mothers as well as the correlation between them by estimating the concentrations of 25-(OH)D3, calcium and phosphorus in maternal blood and cord blood at birth, and by measuring the bone speed of sound (SOS) of neonates and their mothers with quantitative ultrasound within 3 days after birth. Methods The concentrations of 25-(OH)D3, calcium and phosphorus in the serum were estimated both from 32 pregnant women who had a term delivery and from the umbilical cord at birth. Within 3 days after delivery, the bone SOS values of the mothers measured from their radius and neonates from their tibia were estimated and the correlation between the mothers and their neonates was analyzed. Thirty-nine non-pregnant healthy women who at the same age as the pregnant women were selected as control group and had their bone SOS measured. The difference of bone SOS between pregnant and healthy non-pregnant women was compared. Results There was positive correlation between cord blood and maternal blood 25-(OH)D3 concentration [(14. 7±7. 8) nmol/L and (30. 3±10. 2) nmol/L, r= 0 . 680, P=0. 000]. The calcium and phosphorus concentration in cord blood [2.36±0. 28)mmol/L and (1.57±0.76) mmol/L] were significant higher than that in maternal blood E(2.09± 0. 17) mmol/L and (1.04±0. 28) mmol/L], but no correlation was found (r=0. 146, P=0. 467; r=0. 148, P=0. 445). No significant correlation was shown in the bone SOS between the infants and their mothers[(3054±76)m/s and (4170+241)m/s, r=0. 223, P=0. 220]. The concentration of 25-(OH)D3 in cord blood was closely correlated with the bone SOS of infants(r=0. 412, P=0. 026). The SOS of healthy women was obviously higher than that of pregnant women [(4258±100)m/s vs (41704±241)m/s, P=0. 043]. Conclusions There are close correlations between fetus and their mothers in vitamin D status and also between vitamin D status and fetus bone development. Some pregnant women may be short of vitamin D in autumn and winter in Shanghai and we should monitor the bone nutritional states for pregnant women.

The Application of Sperm Mobility Parameters in Semen Quality Analysis / 医学研究杂志

Objective To discuss the application of sperm mobility parameters in semen quality analysis. Methods The semen samples from 2343 outpatient males were examinated following theWorld Health Organization (WHO) guide, and sperm mobility parameters were also evaluated.Results There are significant difference of all sperm mobility parameters between normal and unnormal semen groups. As spermatozoa vialibity reduced, VCL、VSL、VAP、MAD、ALH、STR had decreased and BCF had increased significantly. Compared with the group which spermatozoa density and activity were both normal, LIN、STR had reduced and MAD、BCF had increased in the small quantity sperm group. All parameters were significant difference besides ALH in the lower sperm activity group. And for that in the group which spermatozoa density and activity were both unnormal, only MAD and ALH were no significant difference. Conlusion Sperm mobility parameters may serve as key parameters of semen quality analysis and play an important role in evaluating the ability of male fertility.

Preparation of Sustained-Release Tetramethylpyrazine Phosphate Tablet and its Bioavailability on Rabbits / 复旦学报（医学版）

Purpose To prepare the sustained-release tablet of tetramethylpyrazine phosphate with hydroxypropylmethylcelluose(HPMC) as matrix material. MethodsThe paddle method and the HPLC method were erspectively used determined the cumulative drug released in vitro and the serum concentration in vivo.ResultsThe cumulative drug released in the first hour was about 20%, while in 12 hours it was above 85%. Drug release behavior can be best described by Higuchi equation, and the release rate decreased as the viscosity and/or the amount of HPMC increased. Compared with the market tablet on the rabbits, the sustained release tablet had the decreased peak concentration (P < 0.05 ); the prolonged peak time and mean residence time (P< 0.05).ConclusionsThe matrix tablet was a good sustained-release dosage form and it had a good in vitro-in vivo correlation.