Antiphospholipid antibodies: lupus anticoagulants, anticardiolipin and antiphospholipid isotypes in patients with sickle cell disease.

Antiphospholipid antibodies were investigated in 37 individuals with sickle cell disease and compared to a control group of 30 healthy subjects. Sickle cell patients included 18 homozygous sickle cell patients, 8 S/beta thalassemic patients and 11 sickle cell trait subjects. In all individuals, antiphospholipid antibodies were explored by lupus anticoagulant (LA) detection and the quantification of IgG and IgM anticardiolipin (aCL) isotypes, total antiphospholipid antibodies (APA) and IgM, IgG and IgA antiphospholipid classes. In homozygous sickle cell patients, mean level of IgG aCL and total APA were significantly increased (17.02 +/- 8.88 GPL/ml, p < 0.05 and 10.64 +/- 10.58 UPL/ml, p < 0.05 respectively). The IgG aCL, total APA and LA frequencies were 22.2%, 44.4% and 62.2%, respectively. APA isotypes were mostly IgG or IgG and IgA. In S/beta thalassemic patients, mean levels of APA were significantly increased (10.81 +/- 7.82 UPL/ml, p< 0.05). Their frequency was 71.4% and they were mostly IgG or IgG and IgA. In patients with sickle cell trait, mean levels of APA were significantly increased (10.84 +/- 5.84 UPL/ml, p < 0.01). Their frequency was 72.7% and mostly of IgG isotype. Our study showed a close association between high APA levels and sickle cell syndrome, however there was no relationship between high levels of antiphospholipid antibodies and the major complications of sickle cell disease.

Abnormalities of coagulation and fibrinolysis in homozygous sickle cell disease.

Abnormalities of coagulation and fibrinolysis were studied in a group of 28 children and young adults with homozygous sickle cell disease (SCD), either in the steady state (n = 12) or during painful crisis (n = 16). Coagulation was explored by standard clotting tests and by measurement of prothrombin complex factors, factor VIII (VIII:C) and antithrombin III (ATIII), protein C (PC) and protein S (PS) activities, while fibrinolytic potential was evaluated using D-dimer, tissue plasminogen activator (t-PA) and plasminogen activator inhibitor (PAI-1) assays. In SCD patients, thrombin time (TT) was constantly shortened, both in the steady state (ratio to control 0.83 +/- 0.08, p < 0.0001) and in crisis (0.76 +/- 0.06, p < 0.0001). Mean levels of prothrombin complex were similar in asymptomatic patients to those in controls, but were significantly decreased during sickle cell crisis (p < 0.05 for factor V and p < 0.0001 for factors II, VII and X). Factor VIII:C was significantly increased, both in the steady state (207 +/- 35%, p < 0.0001) and during crisis (208 +/- 34%, p < 0.0001). PS activity was reduced int he steady state (81 +/- 12%, p < 0.01) and further diminished in crisis (68.5 +/- 27.5%, p < 0.001), while D-dimers were significantly elevated during sickle cell crisis (1028 +/- 675 ng/ml, p < 0.001). In all SCD patients, baseline levels of t-PA antigen were comparable to those in controls, whereas concentrations of PAI-1 antigen were significantly increased, either in the steady state (89.7 +/- 26.3 ng/ml, p < 0.0001) or in crisis (75.0 +/- 24.8 ng/ml, p < 0.0001). These results provide evidence for the presence of circulating activated clotting factors in SCD and for an imbalance of the profibrinolytic and antifibrinolytic systems most likely due to increased PAI-1 levels.

[Study of a custom in Somalia: the circumcision of girls]. / Etude d'une coutume en Somalie: la circoncision des filles.

Female circumcision and infibulation is a common practice in parts of Africa. The present report describes the results of a study conducted in Somalia during Operation "Restore Hope". Using pre-defined questionnaire, a total of 300 women and 70 men were interviewed in order to evaluate the prevalence of this practice in Somalia, the procedures used, and the psychologic implications for the population. Fully 100% of the women interviewed had been circumcized and 80% had undergone infibulation. In most cases the procedure had been performed before the age of 10 years. Infection, hemorrhage and double episiotomy were reported by 60%, 20%, and 10% of responders respectively. All but 10 responders expressed support for the practice and many had already had the procedure performed in their children. The findings of this study demonstrate that the practice remains widespread in Somalia where a large proportion of the population is favorable despite the fearful childhood memories of many women.

[Hereditary hyperoxaluria or oxalosis. Apropos of a case]. / L'hyperoxalurie héréditaire ou oxalose. A propos d'un cas.

We report a case of primary oxalosis in a 12-year old girl. This unusual observation exemplifies two diagnostic pitfalls, i.e. false urinary tract infections and technical difficulties in accurately measuring oxalate urinary excretion. On the basis of this case and a review of the literature, we discuss diagnostic and therapeutic methods. Early diagnosis of the disease is important in order to monitor the patient and provide genetic counseling.