1/25. A novel resistance to thyroid hormone associated with a new mutation (T329N) in the thyroid hormone receptor beta gene.Resistance to thyroid hormone (RTH) is a syndrome of elevated serum thyroxine, inappropriately "normal" serum thyrotropin (TSH) and reduced thyroid hormone responsiveness associated with point mutations in the thyroid hormone receptor-beta (TRbeta) gene. We describe a novel point mutation resulting in a cytosine for adenine substitution at nucleotide 1271 (exon 9) that results in the substitution of threonine for asparagine (T329N). This mutation was identified in a 30-year-old woman who was investigated for recurrent spontaneous abortions and was found to have RTH. dextrothyroxine (D-T4) therapy was instituted. At 8 mg per day 2 pregnancies followed with the delivery of a healthy boy and an RTH-affected girl another miscarriage occurred on D-T4 treatment at 6 mg per day. The T329N mutation, which was also identified in the daughter, markedly reduces the affinity of TRbeta for triiodothyronine (T3). Formation of T329N mutant TR homodimers and heterodimers with RXRalpha on thyroid hormone response element F2 (TRE F2) was not affected, but the ability of T3 to interrupt T329N mutant TRbeta homodimerization was markedly reduced. The T329N mutant TRbeta was transcriptionally inactive in transient expression assays. In cotransfection assays with wild-type TRbeta1, the mutant TRbeta1 functioned in a dominant negative manner. The results suggest that the T329N mutation in the T3-binding domain of TRbeta is responsible for RTH in the proposita's family.- - - - - - - - - - ranking = 1keywords = delivery (Clic here for more details about this article) |
2/25. myocardial infarction and death after caesarean section in a woman with protein s deficiency and undiagnosed phaeochromocytoma.We describe the case of a 36-year-old woman, with a previous history of recurrent abortion due to protein s deficiency, undergoing an elective Caesarean section at 39-weeks gestation. During pregnancy no signs of hypertension or cardiovascular disease were reported, but at the end of the surgical procedure, the patient developed acute hypertension, leading to myocardial infarction, severe heart failure and death. The autopsy revealed a 2-cm undiagnosed phaeochromocytoma in the right adrenal gland. Clinical diagnostic features of phaeochromocytoma during pregnancy as well as the main therapeutic approaches suggested in the literature are discussed.- - - - - - - - - - ranking = 0.19234400485098keywords = section (Clic here for more details about this article) |
3/25. Twin delivery after myomectomy, in vitro fertilization, and embryo reduction in an infertile woman.A 28-year-old patient had metroplasty performed because of necrosis of a uterine fibroid. During follow-up, the left adnexa were removed because of a recurrent left ovarian cyst. The triplet gestation achieved by in vitro fertilization was reduced to twins. The living premature newborns were delivered abdominally.- - - - - - - - - - ranking = 4keywords = delivery (Clic here for more details about this article) |
4/25. Successful pregnancy after 24 consecutive fetal losses: lessons learned from surrogacy.OBJECTIVE: To offer surrogacy as a treatment option to patients in whom maternal rather than fetal factors are responsible for high-order unexplained habitual abortions. DESIGN: Case report. SETTING: University hospital. PATIENT(S): A 36-year-old woman with 24 consecutive abortions over 11 years. INTERVENTION(S): A regular IVF procedure in the aborting woman and transfer of two good-quality embryos to the surrogate mother, who had previously received hormones. MAIN OUTCOME MEASURE(S): Ovarian response, oocytes, fertilization, and embryo quality in the aborting patient. Endometrial thickness, implantation, pregnancy, and delivery in the surrogate mother. RESULT(S): Transfer of two embryos to the surrogate mother led to a clinical pregnancy, which was uneventful until term. cesarean section was performed for breech presentation, with delivery of a healthy male. CONCLUSION(S): Surrogacy can be offered as a treatment option to patients in whom maternal rather than fetal factors are responsible for high-order unexplained habitual abortions.- - - - - - - - - - ranking = 2.0384688009702keywords = delivery, section (Clic here for more details about this article) |
5/25. Homozygous factor v Leiden mutation in a woman with multiple adverse pregnancy outcomes.We report a case with one intrauterine fetal death (IUFD) at 32 weeks of gestation, one premature delivery at the same week, and one abortion of unknown etiology at 12 weeks of gestation. We discuss that the presence of homozygosity for factor v Leiden may be associated with placental insufficiency in this woman. Application of anticoagulant therapy may have been beneficial in her current pregnancy.- - - - - - - - - - ranking = 1keywords = delivery (Clic here for more details about this article) |
6/25. Is factor xii deficiency related to recurrent miscarriage?Factor XII (FXII) is an important protease that plays a major role in the initiation of the intrinsic pathway of blood coagulation. Although congenital FXII deficiency is not associated with a clinical bleeding tendency, it can be identified on a routine coagulation test, such as a prolonged activated partial thromboplastin time. This deficiency is a rare autosomal recessive disorder. It is still unclear whether FXII deficiency causes any disorders during pregnancy. Recurrent miscarriages and placental abruption were reported in cases with FXII deficiency. We successfully treated a woman whose pregnancy was complicated by congenital FXII deficiency. We report her clinical courses of gestation, delivery, and puerperium and discuss the role of maternal FXII associated with pregnancy. In our case, courses of gestation and delivery were normal. Postpartum uterine bleeding was, however, prolonged due to a subinvolution of the puerperal uterus. Our results indicate that, except for postpartum uterine contraction, FXII does not play a major role in gestation and delivery. We suggest that FXII deficiency is not associated with recurrent miscarriage and that normal gestation and vaginal delivery are possible even in cases with congenital FXII deficiency. We assert that the possible correlation of FXII deficiency with recurrent miscarriage merits reevaluation.- - - - - - - - - - ranking = 4keywords = delivery (Clic here for more details about this article) |
7/25. Use of low molecular weight heparin in pregnancy.In a controlled study of 15 pregnant patients undergoing therapeutic termination of pregnancy, seven received subcutaneously 5,000 anti-FXa units of low molecular weight (LMW) heparin 15 and 3 h prior to the termination, and eight patients acted as controls. Paired maternal and fetal blood samples were taken (before or immediately after the termination) for assay of heparin activity by a chromogenic anti-FXa method sensitive to levels of 0.02 anti-FXa U/ml. LMW heparin was detected in all maternal samples of the test patients but was not detected in any of the fetal samples. The use of LMW heparin as a thromboprophylactic agent was then evaluated in 11 patients who were known to have a severe thromboembolic tendency, had suffered recurrent miscarriages and had responded poorly to conventional anticoagulation (oral anticoagulant, conventional heparin). All patients receiving LMW heparin in thromboprophylactic doses completed uneventful pregnancies and gave birth to healthy babies (three for the first time) without complication. bone density scans performed in all patients shortly after the delivery showed normal mineral mass. We conclude that LMW heparin does not cross the placental barrier, and in addition offers satisfactory antithrombotic protection for both maternal and placental circulation. In addition, this study provides preliminary data from 11 patients suggesting LMWH may not give rise to maternal osteoporosis, a finding that now needs further investigation.- - - - - - - - - - ranking = 1keywords = delivery (Clic here for more details about this article) |
8/25. Medical and psychological management of recurrent abortion, history of postneonatal death, ectopic pregnancy and infertility: successful implementation of IVF for multifactorial reproductive dysfunction. A case report.The medical and psychological treatment for a 37-year-old Caucasian G6 P1051 woman who presented for evaluation of secondary infertility and recurrent pregnancy loss is described. Although one living child had been conceived without medical assistance, that delivery preceded the present evaluation by ten years and involved a different partner. With the current husband, the patient had two miscarriages and a left ectopic pregnancy. The couple had attempted controlled ovarian hyperstimulation and in vitro fertilization (IVF) elsewhere, but the cycle was cancelled due to poor follicular response. About one year before consultation at our institution, the couple established a pregnancy although the infant was born at 24 weeks with a cardiac anomaly, living only 40 days. Additionally, a persistent cervical lesion required cone biopsy before any fertility treatment could resume. andrology evaluation found the husband's sperm dna fragmentation index to be 48.6%. This constellation of stressors represented substantial emotional issues and psychological therapy/counseling was recommended. After obtaining psychological clearance, the couple underwent IVF and 16 oocytes were retrieved. Four embryos were transferred, and a healthy male infant was delivered at term. Although multifactorial infertility can be associated with very poor reproductive outcomes, the advanced reproductive technologies merit consideration during management of complex clinical challenges. Standard IVF strategies can be optimized by inclusion of thorough psychological assessment and counseling.- - - - - - - - - - ranking = 1keywords = delivery (Clic here for more details about this article) |
9/25. Successful pregnancy after preimplantation genetic diagnosis in a female with Robertsonian translocation.Preimplantation genetic diagnosis (PGD) is an alternative option for couples with chromosome abnormalities. A 34-year-old woman with balanced Robertsonian translocation [(45, XX, der(13; 14)(q10; q10)] requested PGD due to recurrent spontaneous abortion. Embryos of good quality were biopsied on day 3 post-oocyte retrieval. The aspirated blastomeres were fixed and analyzed using fluorescence in situ hybridization. In the first cycle, 2 unaffected embryos were transferred back without success. No unaffected embryo was available in the second cycle. On day 5 in the third cycle, 2 unaffected embryos were transferred resulting in a twin pregnancy. amniocentesis confirmed the diagnosis. At the gestational age of 35 weeks, 2 healthy girls were born via cesarean section. Postnatal physical examination found no evidence of major abnormalities.- - - - - - - - - - ranking = 1.9544750896114keywords = cesarean section, section (Clic here for more details about this article) |
10/25. Late puerperal thrombohemorrhagic complications in a patient with antiphospholipid syndrome.In this study, we present a case of late-puerperal onset of thrombohemorrhagic complications in a 33-yr-old woman with known antiphospholipid syndrome (APS) and heterozygosity for factor v Leiden gene mutation. Antithrombotic prophylaxis with low-molecular-weight (LMW) heparin was given since the 12th gestational week. pregnancy and cesarean delivery were uncomplicated. Five weeks postpartum, the patient developed a severe hemorrhagic diathesis with marked thrombocytopenia accompanied by vaginal, nasal and cutaneous bleeding. A variety of autoimmune phenomena were also detected, partly at clinical presentation and partly later on, despite ongoing steroid treatment. Platelet counts recovered to normal values within a few weeks secondary to high-dose steroids and intravenous immunoglobulin administration. An ultrasound of both legs, performed because of persistent complaint of moderate calf pain, revealed bilateral deep venous thromboses (DVT). The clinical and biochemical findings were not consistent with thrombotic thrombocytopenic purpura (TTP), heparin-induced thrombocytopenia (HIT) or the 'hemolysis, elevated liver enzymes and low platelet syndrome' (HELLP). The diagnostic criteria for systemic lupus erythematosus (SLE) were not fulfilled either. The complex of thrombohemorrhagic complications and autoimmune phenomena seen in this case is unusual and not previously described in the late puerperal stage of APS-related pregnancies.- - - - - - - - - - ranking = 1keywords = delivery (Clic here for more details about this article) |
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