No abstract available.
Ehlers-Danlos Syndrome*

Congenital factor VII deficiency is a rare hemorrhagic disorder, and invasive procedures are likely to cause excessive bleeding in these patients. Endoscopic submucosal dissection (ESD) has been accepted as a curative treatment modality for gastric adenoma, early gastric cancer (EGC) and any other mucosal and submucosal tumors. The most important complications of ESD are bleeding and perforation. The use of antiplatelet agents or coagulopathies are risk factors for these complications. There are only few reports of successful ESD with coagulation disorders. We report a case of a 70-year-old female patient who was diagnosed with a gastric adenoma and factor VII deficiency. The patient was successfully treated with ESD. Before ESD, recombinant Coagulation factor VIIa was injected, and the procedure was performed successfully without any complications. In conclusion, ESD can be performed successfully in patients with factor VII deficiency, when recombinant human factor VIIa is administered properly.
Adenoma* ; Aged ; Endoscopy ; Factor VII Deficiency* ; Factor VIIa ; Female ; Hemorrhage ; Hemorrhagic Disorders ; Humans ; Platelet Aggregation Inhibitors ; Risk Factors ; Stomach Neoplasms

<b>OBJECTIVEb>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.

<b>METHODSb>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.

<b>RESULTSb>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.

<b>CONCLUSIONb>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.

Adult ; Aged ; Consanguinity ; Factor VII Deficiency ; genetics ; Factor X Deficiency ; genetics ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Phenotype

No abstract available.
Corneal Opacity ; Ehlers-Danlos Syndrome*

Ehlers-Danlos syndrome type IV(the arterial-ecchymotic type) which has skin fragility, easy bruisability, and j oint hyperextensibility is occasionally combined with large vessel involve-ment and spontaneous catastrophic bleeding. As even a small inj ury can cause profound vascular tearing and damage, surgical management is hazardous and often unrewarding. We report a successful surgical treatment of an acute type A aortic dissection associated with Ehlers-Danlos syndrome.
Ehlers-Danlos Syndrome* ; Hemorrhage ; Skin

Ehlers-Danlos Syndrome ; Humans ; Infant, Newborn ; Male

<b>OBJECTIVEb>To perform gene analysis and family survey of a patient with combined inherited FVII and FX deficiency, and to identify the gene mutation of this patient.

<b>METHODSb>The phenotype diagnosis was validated by coagulant parameter assay on prothrombin time (PT), activated partial thromboplastin time (APTT), fibrinogen, FVII and FX activity (FVII:C, FX:C) and FVII and FX antigen (FVII:Ag, FX:Ag). FVII and FX gene mutations were analyzed in the proband and other family members by DNA direct sequencing of all exons, exon-intron boundaries and 5', 3' untranslated sequences. One hundred and six health examination participants were selected as control.

<b>RESULTSb>The values of PT and APTT of the proband showed significantly prolonged, which were 84.5s and 63.4s, respectively. The levels of FVII:C, FVII:Ag, FX:C and FX:Ag were 6%, 7%, 4% and 30%, respectively. The PT of his father, mother and sister was prolonged slightly while both APTT and FVII:Ag were in the normal range. Two homozygous mutations, g.11267C→T in exon 8 of FVII gene resulting in the substitution of Arg277Cys and g.28139G→T in exon 8 of FX gene leading to the substitution of Val384Phe, were identified in the proband. The proband's parents and sister were heterozygous for Arg277Cys and Val384Phe mutations.

<b>CONCLUSIONb>Homozygous mutation Arg277Cys in FVII gene and Val384Phe in FX gene were the molecular mechanism causing combined inherited FVII and FX deficiency. The Val384Phe substitution was a novel mutation, which may affect the synthesis or secretion of FX protein.

Adolescent ; Adult ; Base Sequence ; DNA Mutational Analysis ; Factor VII ; genetics ; Factor VII Deficiency ; complications ; genetics ; Factor X Deficiency ; complications ; genetics ; Female ; Heterozygote ; Humans ; Male ; Middle Aged ; Mutation ; Pedigree ; Young Adult

Disseminated intravascular coagulation (DIC) is a pathological syndrome in which activation of coagulation cascade leads to fibrin clot formation, consumption of platelets and coagulation factors, and secondary fibrinolysis. We report a case of severe postoperative hemorrhagic diathesis due to DIC. A 59-year-old man was scheduled for reduction of tibia fracture and anatrophic nephrolithotomy of staghorn calculi. On the fifth postoperative day, second operation was performed for nephrectomy due to perirenal hematoma. Two days later, third operation was performed for hemostasis because of the continuous bleeding. Coagulation tests showed positive DIC profiles of thrombocytopenia, hypofibrinogenemia, increased fibrin degradation products, and prolonged prothrombin time and thrombin time. The patient recovered uneventfully and discharged on the 59th postoperative day.
Blood Coagulation Factors ; Calculi ; Dacarbazine ; Disseminated Intravascular Coagulation* ; Fibrin ; Fibrin Fibrinogen Degradation Products ; Fibrinolysis ; Hematoma ; Hemorrhage* ; Hemorrhagic Disorders ; Hemostasis ; Humans ; Middle Aged ; Nephrectomy ; Postoperative Complications ; Prothrombin Time ; Thrombin Time ; Thrombocytopenia ; Tibia

Factor XI deficiency (also called Hemophilia C) rarely occurs among ethnicities other than Ashkenazi Jews. A boy was scheduled for frontoethmoidectomy due to bilateral chronic rhinosinusitis. He was incidentally found to have factor XI deficiency due to prolonged aPTT on preoperative laboratory finding. His medical history reveals frequent epistaxis 2 or 3 times per day and his factor XI and XII activity were 17% (normal; 60-140%) and 34% (normal; 60-140%), respectively on furthermore laboratory evaluation. He was diagnosed as hereditary factor XI deficiency. He underwent the operation with administration of the fresh frozen plasma without complication.
Epistaxis ; Factor XI ; Factor XI Deficiency ; Hemophilia A ; Humans ; Jews ; Plasma

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