1/368. fibrinogen St. Gallen I (gamma 292 Gly--> Val): evidence for structural alterations causing defective polymerization and fibrinogenolysis. fibrinogen St. Gallen I was detected in an asymptomatic Swiss woman. Routine coagulation tests revealed a prolonged thrombin and reptilase time. Functionally measured fibrinogen levels were considerably lower than those determined immunologically. polymerization of fibrin monomers derived from purified fibrinogen was delayed in the presence of either calcium or EDTA. Normal fibrinopeptide a and B release by thrombin was established. An abnormal degradation of fibrinogen St. Gallen I by plasmin was observed. Fragment D1 of normal fibrinogen was fully protected against further proteolysis in the presence of 10 mM calcium, whereas fibrinogen St. Gallen I was partially further degraded to fragments D2 and D3. In the presence of 10 mM EDTA, the conversion of variant fragment D1 to D2 was accelerated whereas the degradation of fragment D2 to D3 was delayed in comparison to degradation of fragments D1 and D2 of normal fibrinogen. Three high-affinity calcium binding sites were found in both normal and variant fibrinogen. mutation screening with SSCP analysis suggested a mutation in exon VIII of the gamma-chain gene. Cycle sequencing of this gene portion revealed a single base substitution from G to T of the base 7527, leading to replacement of gamma 292 glycine by valine. The same mutation has already been described for the fibrinogen variant baltimore I. Molecular modeling was performed of a part of the gamma-chain containing the mutation site, based on recently published X-ray crystal structures of human fibrinogen fragment D and of a 30 kD C-terminal part of the gamma-chain. Significant structural alterations due to the substitution of glycine by valine at gamma 292 were observed, e.g. spreading of the protein backbone, probably leading to a modified accessibility of the plasmic cleavage sites in the gamma-chain at 356 Lys and 302 Lys. A shift of gamma 297 Asp that is involved in interactions of fragment D with the Gly-Pro-Arg-Pro-peptide was noted by molecular modeling. The latter observation is compatible with delayed polymerization of fibrin monomers. ( info) |
2/368. Lupus anticoagulant syndrome: case report. A twenty seven year old female was referred to our department with deep vein thrombosis, abnormal activated partial thromboplastin time (aPTT) ratio 1:60 and prothrombin time (PT) INR of 3:11. She had history of loss of pregnancies previously. Coagulation tests with pooled normal fresh plasma did not correct a PTT because of a coagulation inhibitor and only partially corrected PT. kaolin clotting time (KCT) of patient plasma (PP) and a mixture of PP/normal plasma (NP) detected the lupus anticoagulant (LA). Venereal Disease Laboratory (VDRL) test on the patient's serum was positive with low titre 1:8 while treponema pallidum haemaglutination test (TPHA) was negative. Anticardiolipin antibodies IgG were raised while IgM levels were within normal levels. This was a case of lupus anticoagulant syndrome. The patient was treated with unfractionated heparin and warfarin and later started on salicylates and prednisone. ( info) |
3/368. Hyperreactio luteinalis associated with chronic renal failure. Hyperreactio luteinalis is a rare benign condition characterized by bilateral ovarian enlargement associated with pregnancies where high concentrations of maternal serum human chorionic gonadotrophins are present. This condition may mimic the ovarian hyperstimulation syndrome. We report a case of a 34 year old woman with a history of chronic renal failure on haemodialysis who presented at 10 weeks' gestational age with hyperreactio luteinalis which was treated conservatively. Because of chronic renal failure, the presentation and course of the disease was different from that which has been previously reported. ( info) |
| An 18-year old woman with type I gaucher disease and two uncomplicated pregnancies is described. Although she experienced one miscarriage and pregnancy was associated with exaggeration of the clinical symptoms, leading to the diagnosis of the disorder, both her 2nd and 3rd pregnancies were uneventful and deterioration of her clinical situation was not observed. The issue of criteria for risk assessment in pregnancy of type I gaucher disease patients is addressed. ( info) |
5/368. hemostasis in the Egyptian female in abortion with a case report. ( info) |
6/368. Clinical details, cytogenic studies,and cellular physiology of a 69, XXX fetus, with comments on the biological effect of triploidy in man. A triploid fetus, 69, XXX, aborted spontaneously at 26 weeks' gestation. It had multiple abnormalities including syndactyly of the hands and feet single palmar creases, hypoplasia of the adrenals and ovaries, hypertrophy of thigh muscles, and abnormalities of the brain. The placenta was large and showed hydatidiform degeneration. The pregnancy had been complicated by acute dyspnoea, pre-eclampsia, and postpartum haemorrhage. Detailed cytogenetic studies, using banding and fluorescence techniques, were performed on fetus and parents. Meiotic studies were made on the fetal ovaries. Muscle cell differentiation and electrophysiological relationships of cultured skin fibriblasts were examined in an attempt to study the way in which the extra haploid set of chromosomes exerts its effect on the phenotype. The antenatal diagnosis of late triploidy is discussed. The finding that 25 per cent of late triploids have spina bifida is further evidence that meningomyelocele has a genetic component and strongly suggests that this results from chromosomal imbalance or a regulatory gene disturbance. ( info) |
7/368. Isolated pleural effusion in severe ovarian hyperstimulation: A case report. Assisted reproductive technology programs use controlled ovarian hyperstimulation to maximize pregnancy rates. Severe ovarian hyperstimulation syndrome is a well-known risk. pleural effusion often accompanies severe ovarian hyperstimulation syndrome. We describe 2 cases of isolated hydrothorax without concomitant ascites and review the literature of this rare finding. ( info) |
| We report a case of acute onset of dermatomyositis with rhabdomyolysis and myoglobinuria, which presented in the 14th week of pregnancy and resulted in spontaneous abortion of the fetus. The diagnostic work up for an underlying disease was negative and the histologic examination confirmed the diagnosis of dermatomyositis, which subsequently improved with corticosteroids. ( info) |
9/368. Immunological abnormalities in primary APS evolving into SLE: 6 years follow-up in women with repeated pregnancy loss. We have performed a prospective study to determine the prevalence of immunological abnormalities and the evolution from primary antiphospholipid syndrome (APS) into systemic lupus erythematosus (SLE) in women who had had unexplained repeated pregnancy loss (PL) and APS. Of 105 women with abortions or fetal deaths, 33(31%) fulfilled criteria for APS. Among these patients with primary APS, 24% had antinuclear antibodies (ANA), 91% had elevated circulating immune complexes (CIC), 70% had low total haemolytic complement (CH100), 52% had low levels of complement 4 (C4) and 30% had low levels of complement 3 (C3), in a significantly higher prevalence than women whose pregnancies were successful (control group). Through out a 6 y follow-up, 3 (9%) of the patients with APS who had autoimmune related abnormalities when entered into the study developed features of lupus like disease (LLD) or fullblown SLE. Our findings suggest that women with unexplained repeated PL with APS who presented with positive ANA, high levels of CIC, low levels of CH100, C3 and C4, may define a subset of patients exhibiting immunological alterations similar to those of SLE. These parameters may help in the assessment of prognosis in APS patients with PL. Those patients should be carefully surveyed with regard to the development of connective tissue diseases. ( info) |
10/368. Fetal brain death and Dandy-Walker malformation. The diagnosis of brain death by Doppler ultrasonography and magnetic resonance imaging is reported in a fetus at 23 weeks' gestation. This is believed to be the first instance in which brain death has been shown in a premature fetus with a brain-stem anomaly. ( info) |