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At least 901 records · Page 50Linked to original sources
PubMed2004

[Studies on the genetic diathesis of asthma bronchial].

To study the association of genes polymorphisms in glutathione S-transferase M1 and T1 with asthma bronchial. The distribute frequency of allele(+) and allele(o) between GSTM1 and GSTT1 of 60 patients asthma bronchial and 60 control groups in Tangshan was studied with PCR. The result shown GSTM1 deficiency allele(0/0) frequency of asthma bronchial was 81.2%, which showed significantly higher(chi(2)=32.46, P<0.001; wchi(2)=28.75,P<0.001) than the control groups; GSTT1 was similar to GSTM1. But GSTT1 zero allele(0/0) frequency of asthma bronchial were 71.7%, which were significantly higher (chi(2)=26.72, P<0.001; wchi(2)=35.75, P<0.001) than the control groups(11.7%). Zero allele of GSTM1 and GSTT1 were showed the most features in the asthma bronchial. Associated significantly in the genes polymorphisms of GSTM1 and GSTT1 with asthma bronchial, their genes mutation may be the genetic risk factor of asthma bronchial.

Adolescent↗
PubMedDate not supplied

Severe thrombophilic diathesis starting with hepatic vein thrombosis (BUDD-CHIARI syndrome) in a family with a new Protein S gene mutation.

We report the case of a 26-year-old man with a chronic Budd-Chiari syndrome with ascites, caused by a hereditary Protein S deficiency, in a Turkish family with consanguinity. In this family, the father, the two sisters and the young brother suffered from severe venous thrombosis of the limbs, with pulmonary embolism in two of them. Those thrombotic events are caused by a hitherto not reported mutation in the PROS 1 gene on chromosome 3, resulting in a severe familial Protein S deficiency. No other thrombophilic defect was detected in the family, despite extensive investigation. Furthermore, we observe hereditary twenty-nail dystrophy in this family, the two genes probably segregating independently. Prophylaxis is discussed.

Adult↗
PubMed2006

Fatal hemorrhagic diathesis associated with mild factor IX deficiency in pl/J mice.

Surgical implantation of devices into the abdomen of PL/J mice was associated with fatal hemorrhage at 9 to 11 d after surgery. Coagulation profiles were evaluated to determine the underlying cause of this effect. The mean activated partial thromboplastin time (aPTT) of untreated PL/J mice was significantly higher than that of BALB/cByJ and C57BL/6J strains. The addition of human plasmas deficient in factors VIII, XI, or XII, prekallikrein, or high molecular-weight kininogen corrected the elevated aPTT of PL/J mice, but correction did not occur when factor IX-deficient human plasma was added. When compared to an assigned factor IX activity of 100% for pooled plasma from BALB/cByJ mice, C57BL/6J and PL/J mice revealed percent activities of 67% and 16%, respectively. PL/J mice could represent a new model for the study of pathogenesis and therapy of mild factor IX deficiency that is expressed and becomes clinically apparent secondary to major surgery.

Animals↗
PubMed1991

Two cases of inherited triple deficiency in a large kindred with thrombotic diathesis and deficiencies of antithrombin III, heparin cofactor II, protein C and protein S.

Thirty-three subjects, belonging to a large family with functional antithrombin III (ATIII) deficiency (type IIa) and recurrent thromboembolism, were investigated for ATIII, heparin cofactor II (HCII), protein C (PC) and protein S (PS). We report the exceptional finding of two cases of triple deficiency: ATIII combined with HCII and PC in the first case aged 15 and ATIII combined with HCII and PS in the second case aged 27. Interestingly, both are asymptomatic thus far. Twenty-five other deficient members were found, among which seven are affected with a double deficiency. Totally, the results of our study show 38 deficiencies of four distinct antithrombotic protein: ATIII (n = 9), HCII (n = 9), PC (n = 7) or PS (n = 13). Two types of HCII deficiency were observed and type I PC deficiency was found. Functional PS deficiency was characterized by reduced levels of cofactor activity for activated PC. Our report demonstrates that combined deficiencies should be sought in a family already known to be deficient in one antithrombotic protein.

Adolescent↗