No abstract available.
Factor VII Deficiency* ; Factor VII*

This 29 years old woman was admitted to the hospital with menstrual and dental bleeding. Physical examination revealed a pale brust on the legs. Laboratory data. - Hemograme: Hb: 7.5 g/dl, Hct: 22.7%, RBC: 2.86 x 1012/ l, WBC: 57.109/l hemostatic: PT: 23“7 (10”9), INR 5.86, aPTT: 32” (38”), PT¬mix 11”2 (10”9). Dosage of factor VII: 2.7%. Dosage of factor X: 102%. Diagnosis: congenital factor VII deficiency. Treatment: frozen plasma (15 ml/kg/day x 3 days) and provera 10 mg/dayx 4 days.
Congenital ; Factor VII Deficiency

Study on 69 patients were dead within 41 months following a partly or total gastroectomy due to the gastric glandular epithelioma in Viet Duc Hospital during January 1995 - June 1997 has shown that male/female (2/1), most of patient were lately admitted in which the abdominal tumor: 46.4%, pyloric stenosis: 20.3%, tumor perforation: 4.3% metastasis: 85.5%, diseases in phase III and phase IV: 85%. Nodal curettage and blood protein level is 2 factors that influence the survival time after operation.
Congenital ; Factor VII Deficiency

Factor VII ; Factor VII Deficiency ; Genotype ; Humans ; Pedigree

Child ; Humans ; Factor VII Deficiency

Factor VII Deficiency ; genetics ; Humans

PURPOSE: Congenital factor VII(FVII) deficiency is a rare bleeding disorder and surgery can cause excessive bleeding due to an extrinsic pathway problem. It can be diagnosed by increased PT and decreased FVII level in coagulation test. Symptom varies according to the level of FVII, but it is essential to prevent intraoperative excessive bleeding. METHODS: In this report, we described the orthognatic surgery experience in a mandibular prognathism patient with congenital F'VII deficiency, in which recombinant activated factor VII(rFVIIa) was used to manage the bleeding. Rsults: We could get a successful result without any complication and there was minimal intraoperative bleeding. CONCLUSION: The orthognathic surgery could therefore be safely performed in patients with congenital factor VII deficiency using rFVIIa.
Factor VII ; Factor VII Deficiency ; Factor VIIa ; Hemorrhage ; Humans ; Orthognathic Surgery ; Prognathism ; Recombinant Proteins

Factor VII deficiency is a rare congenital bleeding disorder characterized by episodes of spontaneous bleeding in severely affected individuals. It is rare intussusception due to submucosal hematoma in coagulation factor deficiency patient. We recently experienced an adult small bowel intussusception in a patient with factor VII deficiency. A 36-yr old female patient with coagulation factor VII deficiency who was referred to our hospital underwent emergency surgery for treatment of the small bowel intussusceptions. Emergency laparoscopy-assisted small bowel resection was performed for treatment of small bowel intussusception caused by submucosal hematoma. The patient was successfully treated with close laboratory monitoring and laparoscopy-assisted small bowel resection.
Adult ; Blood Coagulation Factors ; Emergencies ; Factor VII ; Factor VII Deficiency ; Female ; Hematoma ; Hemorrhage ; Humans ; Intussusception

OBJECTIVE: To investigate the gene mutations types and the clinical characteristics in 3 patients with hereditary coagulation factor Ⅶ deficiency. METHODS: The phenotype diagnosis was validated by detecting the coagulation parameters including prothrombin time (PT)，activated partial thromboplastin time (APTT), fibrinogen (FIB), FⅦ activity (FⅦ: C) and specific antigens (FⅦ: Ag) of proband and its family members. All exons, exon-intron boundaries, 5＇ untranslated regions and 3＇ untranslated regions of F7 gene were amplified with PCR. Potential mutations were detected by direct sequencing of purified PCR products. Suspected mutations were confirmed by sequencing of the opposite strand. RESULTS: A total of 5 different mutations were identified in 3 patients with hereditary coagulation factor Ⅶ deficiency and family members, including 4 misssense mutations and 1 splice site mutation. Out of 3 cases of hereditary coagulation factor Ⅶ deficiency 2 had double heterozygous mutation, I had homozygous mutations. Patient 1 had p.His408Gln with p.Arg413Gln double heterozygous mutations, her sister had p.His408Gln with p.Arg413Gln double heterozygous mutations, another one had p.His408Gln mono-heterozygous mutation, their correspo FⅦ: C were 5%, 3%, 75%. Patient 2 had p.Arg364Gln with p.His408Gln double heterozygous mutations, her brother had p.Arg364Gln with IVS6-1G＞A double heterozygous mutations, their corresponding FⅦ: C were 2.0%, 2.0%. Patient 3 had p.Arg337Cys homozygous mutation, FⅦ: C was 3.0%. CONCLUSION A total of 5 different mutations were identified in 3 patients with hereditary coagulation factor Ⅶ deficiency, the p.His408Gln is a common mutation, the FⅦ: C and FⅦ: Ag have no correlation with clinical phenotypes.
Factor VII ; Factor VII Deficiency ; Female ; Heterozygote ; Homozygote ; Humans ; Male ; Mutation ; Pedigree ; Phenotype

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.
Asian Continental Ancestry Group ; Factor VII ; Factor VII Deficiency ; Genotype ; Heterozygote ; Humans ; Mutation ; Pedigree