1/194. 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.- - - - - - - - - - ranking = 1keywords = mole (Clic here for more details about this article) |
2/194. pregnancy in gaucher disease.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.- - - - - - - - - - ranking = 24.078693244469keywords = pregnancy (Clic here for more details about this article) |
3/194. 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.- - - - - - - - - - ranking = 19.416876045954keywords = pregnancy, hydatidiform (Clic here for more details about this article) |
4/194. 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.- - - - - - - - - - ranking = 12.039346622235keywords = pregnancy (Clic here for more details about this article) |
5/194. Acute onset of dermatomyositis presenting in pregnancy with rhabdomyolysis and fetal loss.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.- - - - - - - - - - ranking = 60.196733111173keywords = pregnancy (Clic here for more details about this article) |
6/194. 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.- - - - - - - - - - ranking = 60.196733111173keywords = pregnancy (Clic here for more details about this article) |
7/194. Second-trimester abortion caused by capnocytophaga sputigena: case report.Intra-amniotic infection is often the cause of a second-trimester abortion. The bacterial species involved include bacteria with low pathogenicity like ureaplasma urealyticum and various mycoplasma species. In this case we describe an intra-amniotic infection caused by capnocytophaga sputigena, often found in the normal bacterial flora of the oral cavity, but not in the vagina. Oral sex during pregnancy was the most probable source of the infection. The aborted fetus showed signs of pneumonia upon histologic examination. The bacterial species was identified using broad-spectrum 16S rDNA polymerase chain reaction (PCR) directly from the amniotic fluid and after bacterial culture. amniotic fluid glucose was below detection level, confirming the presence of an intra-amniotic infection.- - - - - - - - - - ranking = 12.039346622235keywords = pregnancy (Clic here for more details about this article) |
8/194. Clinical management of a quadruplet pregnancy combining a triplet pregnancy with a classical hydatidiform mole: case report and review of literature.A 28-year-old Taiwanese woman who had received ovulation induction by clomiphene citrate (CC), follicular-stimulating hormone (FSH), and human chorionic gonadotrophin (hCG) treatment was diagnosed with a quadruplet pregnancy containing a hydatidiform mole and three fetuses at nine weeks' gestation. Expectant management failed to achieve any viable neonate due to massive antepartum haemorrhage and preterm delivery at 25 weeks' gestation. Five other cases previously reported involving quadruplets or triplets with a complete hydatidiform mole and two or three fetuses are reviewed. All cases ended as premature non-viable fetuses. Analysis of the clinical features, management, and outcome both in our patient and these reports suggest that more efficacious treatment planning, such as selective feticide, should be considered in order to improve the likelihood of attaining an advanced gestational age for a single fetus.- - - - - - - - - - ranking = 247.9898650676keywords = hydatidiform mole, pregnancy, hydatidiform, mole (Clic here for more details about this article) |
9/194. zinc deficiency in malabsorption states: a cause of infertility?Thirteen patients with malabsorption, 7 women and 5 men, were investigated extensively. All showed low serum zinc concentrations irrespective of the duration of illness and degree of malabsorption. Eleven of the 13 had active coeliac disease. It was suspected that the low serum zinc concentrations reflected a state of zinc deficiency, and this theory was borne out by the fact that no inflammatory reaction, no clear-cut albumin deficiency, and no oestrogen or corticosteroid influence could be demonstrated. All 7 women suffered from infertility, in most of them of long standing. Two showed secondary infertility after pregnancy and abnormal labour resulting in infants with congenital malformations (one case of bilateral congenital dislocation of the hip and one of multiple cardiac anomalies). I have reported similar complications in pregnancies in which the serum zinc was low. One of the infertile women conceived after the institution of gluten-free diet and zinc therapy, but later aborted spontaneously. Investigations on zinc metabolism and intestinal absorption might well prove valuable in otherwise unexplained infertility and could open up a new therapeutic approach.- - - - - - - - - - ranking = 12.039346622235keywords = pregnancy (Clic here for more details about this article) |
10/194. Successful induction of ovulation using highly purified follicle-stimulating hormone in a woman with Kallmann's syndrome.OBJECTIVE: To describe a woman with Kallmann's syndrome who was treated successfully with highly purified FSH to achieve ovulation induction and pregnancy. DESIGN: Case report. SETTING: University hospital. PATIENT(S): A 32-year-old woman with Kallmann's syndrome who had been treated with oral contraceptives to prime secondary sex characteristics and genital organs since the age of 16 years. INTERVENTION(S): Highly purified FSH was administered intramuscularly for a total dose of 3,825 IU. MAIN OUTCOME MEASURE(S): Follicle number and diameter. RESULT(S): Three follicles with a diameter of > 1.7 cm and an endometrial thickness of 8 mm were observed. A clinical pregnancy, which subsequently was spontaneously aborted, was obtained. CONCLUSION(S): In primed patients with Kallmann's syndrome, highly purified FSH may be a useful alternative to pulsatile GnRH or menopausal gonadotropins to achieve ovulation induction and pregnancy.- - - - - - - - - - ranking = 36.118039866704keywords = pregnancy (Clic here for more details about this article) |
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