The aim of current study was to detect intron 22 inversion of factor VIII gene in severe hemophilia A (HA) patients and screen the carriers of the gene inversion. Fifty-five cases of severe HA were involved and factor VIII gene inversion was detected and identified by long distance-PCR (LD-PCR) and 0.6% agarose gel electrophoresis. The 11 kb and 12 kb bands indicate the factor VIII gene inversion and non-inversion, respectively. Occurring of both 11 kb and 12 kb bands indicates a carrier of the inversion. The results showed that factor VIII gene inversion existed in 22 out of 55 cases, which accounted for about 40% of total detected patients. Five carriers of factor VIII gene inversion were diagnosed from the members in 15 families. In conclusion, LD-PCR assay is a simple, rapid and accurate method for detection of factor VIII gene inversion, and this approach is helpful in screening, carrier testing, and prenatal diagnosis of severe hemophilia A.
Adolescent ; Adult ; Antigens ; analysis ; Child ; Child, Preschool ; Chromosome Inversion ; Factor VIII ; genetics ; Hemophilia A ; blood ; genetics ; Humans ; Infant ; Male ; Polymerase Chain Reaction ; methods ; von Willebrand Factor ; immunology

OBJECTIVETo establish an effective laboratory examination system for carrier detection and prenatal diagnosis of haemophilia A (HA).

METHODSTwenty-five carriers of severe HA were directly detected by long-distance PCR (LD-PCR) in search of the factor FVIII (FVIII) gene inversion. Prenatal diagnosis was carried out using pregnant woman's venous blood sample, husband's venous blood sample and fetal navel venous sample at 20-24 weeks of gestation. The plasma coagulation factor VIII activity (FVIII:C) was detected by one-stage method. The concentration of von Willbrand factor (Vwf) was assayed by ELISA. Prenatal diagnosis was finally made by LD-PCR. The results of LD-PCR were proved by DNA sequencing.

RESULTSEight out of 25 cases were diagnosed as having FVIII geneinversion. Four of these 8 carriers underwent the LD-PCR for prenatal diagnosis, and 2 of them had to terminate pregnancy because their fetuses were diagnosed as having HA. The other two carriers were finally diagnosed to have normal fetuses by combined use of LD-PCR with plasma FVIII:C, vWF in pregnant woman's venous blood, husband's venous blood and fetal navel venous blood, and the one-year follow-up study demonstrated that the babies were normal and living well.

CONCLUSIONLD-PCR technique was adopted in this study to detect the factor VIII gene inversion; it could accurately and rapidly diagnose the severe cases of HA and could be used for the HA carriers in need of pregnant diagnosis.

Factor VIII ; genetics ; Female ; Hemophilia A ; diagnosis ; genetics ; Humans ; Polymerase Chain Reaction ; methods ; Pregnancy ; Prenatal Diagnosis ; methods ; Reproducibility of Results

OBJECTIVETo study the effect of Yiqi Bufei Recipe ([see text], YBR) on surgical tolerability, pulmonary compensatory function and post-operation rehabilitation in patients with pulmonary incompetence (PI) after pneumonectomy.

METHODSYBR intervention was applied to 60 patients with PI after pneumonectomy (as test group), the pulmonary and cardiac functions changes before and after operation, occurrence of postoperative complications, mortality, and the number of hospitalization days and intensive care unit (ICU) confinement period were observed. Meantime, for the negative and positive controls, the same parameters were observed comparatively in 60 patients with normal lung function, and in 60 patients with PI undergoing a similar operation but untreated with Chinese herbs.

RESULTSLung function in the test group showed insignificant change before and after operation (P >0.05), while significant decrease was seen in the two control groups (P<0.05). Furthermore, the incidences of post-operation complications and mortality as well as the number of hospitalization days and the ICU confinement period in the test group were significantly lower than those in the positive control group respectively (P <0.05).

CONCLUSIONYBR could relieve lung injury after pneumonectomy, improve surgical tolerability, reduce the length of postoperative hospitalization days and ICU confinement period, and lower the incidence of postoperative complications and mortality in patients with PI after pneumonectomy.

Blood Gas Analysis ; China ; epidemiology ; Drugs, Chinese Herbal ; pharmacology ; Female ; Heart Function Tests ; drug effects ; Humans ; Incidence ; Intensive Care Units ; Length of Stay ; Lung ; drug effects ; physiopathology ; surgery ; Male ; Middle Aged ; Pneumonectomy ; adverse effects ; Postoperative Complications ; epidemiology ; etiology ; Respiratory Function Tests ; Treatment Outcome