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1.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-247687

RESUMO

<p><b>OBJECTIVE</b>To identify potential mutation underlying coagulation factor X (FX) deficiency in a consanguineous Chinese pedigree.</p><p><b>METHODS</b>Prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, FX activity (FX:C) and other coagulant parameters were determined with a one-stage clotting assay. The FX antigen (FX:Ag) was determined with an ELISA assay. All coding exons and exon-intron boundaries of the F10 gene were amplified with PCR and subjected to direct sequencing. Suspected mutation was confirmed by reverse sequencing and analyzed with CLC Genomics Workbench 7.5 software.</p><p><b>RESULTS</b>The PT and APTT in the proband were prolonged to 67.2 s and 102.9 s, respectively. Further study showed that her FX:C and FX:Ag were reduced by 1% and 8%, respectively. The PT of her father, mother, and little brother were slightly prolonged to 14.5 s, 14.4 s and 14.4 s, respectively. The FX:C and FX:Ag in her father, mother and little brother were all slightly reduced. Genetic analysis of the proband has revealed a homozygous G>A change at nucleotide 27881 in exon 8 of the F10 gene, which predicted a p.Val298Met substitution. The proband's father, mother, and little brother were all heterozygous for the p.Val298Met mutation. The proband has inherited the homozygous mutation from her parents by consanguineous marriage. Other family members were all normal. Bioinformatics analysis has indicated that this mutation may result in changes in the secondary structure of the FX protein.</p><p><b>CONCLUSION</b>A homozygous mutation g.27881G>A(p.Val298Met) of the F10 gene has been identified, which probably accounts for the low FX concentrations in this pedigree.</p>


Assuntos
Adulto , Sequência de Aminoácidos , Consanguinidade , Fator X , Genética , Deficiência do Fator X , Genética , Feminino , Homozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Mutação de Sentido Incorreto , Linhagem , Tempo de Protrombina
2.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-477837

RESUMO

To analyze the mutations of F12 genein one pedigree with congenital factor FXII (FXII) deficiency , and investigatethe molecular mechanisms of FXII deficiency . Methods Activated partial thromboplastin time(APTT),Prothrombin time(PT), FXII activity(FXII:C), FXII antigen(FXII:Ag) and other coagulant parameters were tested in the proband and his family members .5'and 3'UTR,all exons and their exon-intron boundaries of F12 gene were analyzed by direct sequencing .The detected mutations were confirmed by reverse sequencing .100 healthy persons were as normal controls .Results The proband showed a markedly prolonged APTT (106.4s), the FXII:C and FXII:Ag were 2.0% and 1.0%, respectively .Hissecond daughter and granddaughter had slightly prolonged APTT , and other family members are normal.The FXII:C and FXII:Ag of family members were also decreased ( his son, 23.0% and 21. 0%;his elder daughter , 23.0%and 23.0%;his second daughter ,24.0%and 23.0%;hisgranddaughter , 23.0%and 23.0%).The phenotype of all members is consistent with cross -reactive material negative . Nucleotide sequencing analysis showed that the proband had missense mutations in the F 12 gene, including one homozygous mutationc.1556T >G ( p.Leu519Arg) and a commonly reported single nucleotide polymorphism site within the promoter region of the F 12 gene (46T/T) .Sequencing results from the proband 'children demonstrate them as carriers of a heterozygous missense mutation .The proband 's wife is normal and with 46C/C in the promoter region .Conclusion The c.1556T>G in exon 13 is a novel mutation .This mutation affects FXIIcatalytic function , associated with a reduced level of FXII .

3.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-239500

RESUMO

<p><b>OBJECTIVE</b>To identify potential mutations in a family affected with inherited factor Ⅶ (FⅦ) deficiency.</p><p><b>METHODS</b>Prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, FⅦ activity (FⅦ:C) and other coagulant parameters of the proband and 15 family members were measured. Potential mutations were screened in the pedigree by polymerase chain reaction and direct DNA sequencing.</p><p><b>RESULTS</b>The PT of the proband and his younger brother was significantly prolonged to 39.0 s and 30.1 s, respectively. FⅦ:C of the proband and his younger brother was obviously reduced to 2% and 3%, respectively. FⅦ:C of his grandmother, maternal grandmother, aunt, father, mother, maternal uncle and maternal aunt was all below the normal range (80%-108%), which measured 68%, 54%, 71%, 73%, 62%, 72% and 59%, respectively. The other coagulant parameters were in the normal range. Two heterozygous mutations, g.11349G>A and g.11482T>G, both reside in exon 8 of the F7 gene, have resulted in p.Arg304Gln and p.His348Gln substitutions, were identified in the proband. The same mutations were also found in the proband's younger brother. Four maternal members in this family (grandmother, mother, maternal uncle and maternal aunt of the proband) were heterozygous for the p.Arg304Gln mutation, while three paternal members (grandmother, aunt and father of the proband) were heterozygous for the p.His348Gln mutation.</p><p><b>CONCLUSION</b>The proband had inherited two independent mutations of the F7 gene including g.11349G>A and g.11482T>G from his mother and father, respectively. The compound heterozygous mutation probably explains the low FⅦ concentrations in this pedigree.</p>


Assuntos
Adulto , Sequência de Bases , Testes de Coagulação Sanguínea , Fator VII , Genética , Metabolismo , Deficiência do Fator VII , Sangue , Genética , Feminino , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Linhagem , Adulto Jovem
4.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-239477

RESUMO

<p><b>OBJECTIVE</b>To identify the genetic mutation underlying congenital hypofibrinogenamia in a Chinese pedigree.</p><p><b>METHODS</b>Standard coagulation tests including the prothrombin time (PT), activated partial thromboplastin time (APTT), thrombin time (TT), plasminogen activity (PLG:A), D-Dimer (DD) and fibrin degradation products (FDP) were tested with fresh plasma using a STA-R analyzer. The activity of fibrinogen (Fg:C) and fibrinogen antigen (Fg:Ag) were measured respectively with the Clauss method and immunoturbidimetry. All exons and exon-intron boundaries of the fibrinogen Aα-, Bβ-, and γ-chain genes (FGA, FGB and FGG) were amplified by PCR followed by direct sequencing. Suspected mutation was confirmed by reverse sequencing and analyzed with a Swiss-PdbViewer.</p><p><b>RESULTS</b>The PT level in the proband was normal, while the APTT and TT were slightly prolonged. The functional and antigen fibrinogen levels were both significantly reduced (0.91 g/L and 0.95 g/L, respectively). Similar abnormalities were also found in her father, elder sister, son and niece. The coagulant parameters of her mother were all within the normal range. Genetic analysis has reveled a heterozygous A>C change at nucleotide 5864 in exon 7 of γ gene in the proband, predicting a novel Lys232Thr mutation. The proband's father, elder sister, son and niece were all carriers of the same mutation. Protein model analysis indicated that the Lys232Thr mutation did not disrupt the native network of hydrogen bonds, but has changed the mutual electrostatic forces, resulting in increased instability of the protein.</p><p><b>CONCLUSION</b>The heterozygous Lys232Thr mutation identified in the FGG gene probably underlies the hypofibrinogenemia in this pedigree.</p>


Assuntos
Adulto , Afibrinogenemia , Genética , Grupo com Ancestrais do Continente Asiático , Genética , Sequência de Bases , China , Feminino , Fibrinogênio , Genética , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Linhagem , Fragmentos de Peptídeos , Genética , Adulto Jovem
5.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-239474

RESUMO

<p><b>OBJECTIVE</b>To identify potential mutation underlying hereditary coagulation factor XII (FXII) deficiency in a pedigree and explore its molecular pathogenesis.</p><p><b>METHODS</b>Activated partial thromboplastin time (APTT), FXII activity (FXII:C) and FXII antigen(FXII:Ag) and other coagulant parameters of the proband and 5 family members were measured. Potential mutations in the 14 exons and intron-exon boundaries of the FXII gene were screened with polymerase chain reaction (PCR) and direct DNA sequencing. Suspected mutations were confirmed with reverse sequencing. Corresponding PCR fragments from other family members were also sequenced.</p><p><b>RESULTS</b>APPT of the proband and his son were significantly prolonged to 121.5 s and 98.5 s, respectively. FXII:C and FXII:Ag of the proband and his son have reduced to 5%, 6.8% and 9%, 12.2%, respectively. Plasma plasminogen activity (PLG:A) in both individuals was slightly higher than the normal reference range. FXII:C of his second daughter and grandson were slightly reduced to 64% and 60%. FXII:C of the other family members were all in the normal range (72%-113%). A heterozygous missense mutation, g.8597G>A, was identified in exon 13 of the FXII gene in the proband, which resulted in an p.Asp538Asn substitution. For the promoter regions of the FXII gene, the genotype of the proband was 46TT. The same mutations and 46T/T were also found in the proband's son but not in other members of the family. The genotypes of the proband's spouse, eldest daughter and grandson were 46CT, and his second daughter was 46TT.</p><p><b>CONCLUSION</b>The heterozygous mutation of g.8597G>A identified in exon 13 of FXII gene is a novel mutation. Heterozygous p.Asp538Asn mutation and 46TT in the FXII gene can cause hereditary FXII deficiency, which was probably responsible for the low FXII concentrations in this pedigree.</p>


Assuntos
Adulto , Sequência de Bases , Éxons , Fator XII , Genética , Deficiência do Fator XII , Genética , Feminino , Genótipo , Heterozigoto , Humanos , Masculino , Pessoa de Meia-Idade , Dados de Sequência Molecular , Linhagem , Mutação Puntual , Adulto Jovem
6.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-287987

RESUMO

<p><b>OBJECTIVE</b>To explore the molecular pathogenesis and clinical phenotypes in 10 probands with inherited fibrinogen (Fg) deficiency.</p><p><b>METHODS</b>The diagnosis of hereditary Fg deficiency was validated by prothrombin time (PT), thrombin time (TT), Fg activity (Fg:C) and Fg antigen (Fg:Ag) in plasma. All of the exons and their flanking sequences of the Fg gene were analyzed by direct sequencing. Detected mutations were confirmed by reverse sequencing.</p><p><b>RESULTS</b>The ranges of Fg:C and Fg:Ag in the 10 probands were 0.52-0.91 g/L and 0.62-2.98 g/L, respectively. Five of the probands had type I disorders, and 5 had type II disorders. Seven point mutations were identified, among which 6 have located in the D region. γThr277Arg, γAsp316His, γTrp208Leu and Lys232Thr were novel mutations, and αArg19Ser was first reported in Chinese. Four probands had the same mutation site (γArg275). As to the clinical manifestation, probands with type I disorders were asymptomatic or with mild or medium symptoms, while those belonged to type II disorders had moderate or serious symptoms. Two probands have carried an Arg275Cys mutation but had different clinical manifestations.</p><p><b>CONCLUSION</b>Mutations of the Fg gene seem to aggregate to the D region of FGG in our region, and Arg275 is a common mutation. However, no correlation has been found between the mutation site and clinical manifestations.</p>


Assuntos
Adolescente , Adulto , Afibrinogenemia , Sangue , Classificação , Genética , Sequência de Bases , Criança , Análise Mutacional de DNA , Métodos , Éxons , Genética , Saúde da Família , Feminino , Fibrinogênio , Genética , Metabolismo , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Tempo de Tromboplastina Parcial , Fenótipo , Mutação Puntual , Reação em Cadeia da Polimerase , Tempo de Protrombina , Tempo de Trombina , Adulto Jovem
7.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-443709

RESUMO

A method based on ultra performance liquid chromatography-tandem mass spectrometry ( UPLC-MS/MS) has been proposed for the determination of coccidiostat residues in chicken skin and fat. The sample was extracted with the combination of methanol, acetonitrile, and acetic acid, and cleaned-up by Sep-Pak tC18 solid phase extraction cartridge. Data acquisition under positive electrospray mode was performed by applying multiple reaction monitoring for both identification and quantification. The limits of detection and quantification for halofuginone and robenidine were 7 μg/kg and 20 μg/kg, respectively. The limit of detection of salinomycin, monensin, narasin, maduramicin, and lasalocid was 5 μg/kg, and limit of quantification was 15 μg/kg. The recovery was 75% to 110% in the spiked concentration range from 15 μg/kg to 200 μg/kg, with intra-day precision lower than 12. 8%, and inter-day precision lower than 13 . 4%.

8.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-254518

RESUMO

<p><b>OBJECTIVE</b>To identify potential mutations and explore the molecular mechanism underlying combined inherited coagulation factors VII(FVII) and X(FX) deficiency for a family featuring consanguineous marriage between maternal cousins.</p><p><b>METHODS</b>Prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, FVII activity (FVII:C), FX activity (FX:C), FVII antigen (FVII:Ag), FX antigen (FX:Ag) and other coagulant parameters of the proband and 5 family members were measured. Potential mutations in exons, exon-intron boundaries and 5', 3' untranslated sequences of F7 and F10 genes were screened by polymerase chain reaction and direct sequencing. Suspected mutations were confirmed by sequencing the opposite strand.</p><p><b>RESULTS</b>PT and APTT of the proband were obviously prolonged to become 76.4 s and 60.2 s, respectively. FVII:C, FVII:Ag,FX:C and FX:Ag of the proband were obviously reduced to become 4%, 6%, 6% and 33%, respectively. Both PT and APTT of her grandmother, father, mother and daughter were slightly prolonged, which have measured 16.4 s, 15.8 s,16.9 s, 16.5 s, and 44.0 s, 42.1 s, 41.1 s, 43.5 s, respectively. And their FVII:C (34%, 39%, 31%, 40%, respectively), FX:C (50%, 58%, 47%, 42%, respectively) and FX:Ag (51%, 54%, 58%, 47%, respectively) were slightly reduced, while FVII:Ag was in the normal range. The coagulant parameters of her younger brother were within normal range. Two homozygous mutations, g.11267C to T in exon 8 of F7 gene, which resulted in an Arg277Cys substitution, and g.28139G to T in exon 8 of F10 gene which led to a Val384Phe substitution, were identified in the proband. The proband's grandmother, parents and daughter were heterozygous for both Arg277Cys and Val384Phe mutationss. Wild-type alleles of both F7 and F10 genes were also found in the younger brother.</p><p><b>CONCLUSION</b>A homozygous Arg277Cys mutation and a Val384Phe mutation have been respectively identified in the F7 and F10 genes, which can explain the low levels of FVII and FX in this family. The former has been inherited from the consanguineous parents.</p>


Assuntos
Adulto , Idoso , Consanguinidade , Deficiência do Fator VII , Genética , Deficiência do Fator X , Genética , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Fenótipo
9.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-391944

RESUMO

Objective To investigate the diagnosis and treatment of congenital tracheoesophageal fistula (TEF) in adult patients. Methods The clinical data of 6 adult patients with congenital TEF who had been admitted to Tangdu Hospital from January 1990 to November 2007 were retrospectively analyzed. All patients had the symp-toms of cough when drinking and/or eating fluid and expectoration. The fistulas of the 6 patients were excised, openings were closed with sutures, and the closures were covered with pedicled pleural flaps. Results All patients were diagnosed preoperatively according to the medical history and imaging examination. All the patients were with H-type TEF. The diameters of the fistulas ranged from 0.3 cm to 1.0 cm, and their lengths ranged from 0.2 cm to 1.5 cm. The outcomes and prognoses of the patients were excellent. All patients were followed up for 5 months to 10 years, and no recurrence occured. Conclusions Congenital TEF should be considered when patients are presented with recurrent and chronic cough and pulmonary suppuration. Congenital TEF can be diagnosed accor-ding to the medical history and imaging examination. Surgical procedure for congenital TEF is safe and effective.

10.
Chinese Pharmacological Bulletin ; (12): 1545-1548, 2009.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-405093

RESUMO

Traditional 2D cell culture technology is widely used in cell culture field, but it lacks the formation of 3D matrix scaffold and lacks specific cytokines in vivo.Cells in 3D cell culture system are similar to cells in vivo for gene expression and cell activity. The article focuses on the application of three-dimensional cell culture technology in cancer research, including the construction of tumor microenvironment,tumor biological behavior, tumor angiogenesis, drug resistance and so on and provides a reference for cancer research workers.

11.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-565855

RESUMO

? amyloid protein(A?) including A?40 and A?42 are the important bioactive substances in vivo.Their toxic and beneficial attributes in the body depend on its concentration.The brain A? level is maintained by two balances under the physiological condition.The first balance is the generation involved in ?-secretase and ?-secretase and the degradation involved in neprilysin(NEP) and insulin-degrading enzyme(IDE) of A?. The second one is the balance between the receptor for advanced end glycation products(RAGE)-mediated influx and low-density lipoprotein receptor related protein 1(LRP1)-mediated efflux of A? across the blood-brain barrier(BBB).Breakdowning any one of the two balances would result in the aggregation and precipitation of A? in the brain,which is a crucial event in the pathogenesis of Alzheimer's disease(AD).This paper reviews the regulation of brain A? level under the physiological condition and the reducing strategies on the level of brain A? under the pathological condition for developing new drugs in the treatment of AD.

12.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-526976

RESUMO

The essay discussed the necessity and essentiality of medical moral education to intern,in the background of market-oriented economy.To summarize ways of medical moral education to intern.

13.
Artigo em Chinês | WPRIM (Pacífico Ocidental) | ID: wprim-580516

RESUMO

Objective To sutdy the anti-inflammatory action and pharmacodynamics of Liushen Cataplasm (LC). Methods The anti-inflammatory action of LC was observed on mice models of xylene-induced ear swelling and on the rat models of carrageenan-induced pedal swelling. With the decrease of pedal swelling as the parameter,the pharmacodynamics of LC was studied. The apparent parameters of pharmacodynamics were estimated based on the time-effect curve. Results LC showed a potent anti-inflammatory effect. The effect-time curve can be described by the one-compartment model. The main pharmacodynamic parameters were as follows:t1/2(Ka)=2.11727h,t1/2(Ke)=3.13464h,AUC=3.33131 mg?kg?h-1,respectively. Conclusion Liushen Cataplasm shows a potent anti-inflammatory effect. The effect-time curve can be described by the one-compartment model.

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