TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION.

Kleefstra or 9q subtelomeric deletion syndrome (9qSTDS) is a rare microdeletion syndrome. The most prominent phenotypic features include hypotonia, developmental retardation, as well as typical dysmorphic face. It has been shown that terminal deletions of the chromosome 9q34.3 region, or EHMT1 gene mutations, lead to Kleefstra syndrome. We present 16-month-old twin sisters, one of whom had originally been referred for Down syndrome screening due to hypotonia, growth and development retardation, dysmorphic facial signs, and accompanying congenital heart disease. They were subsequently diagnosed as Kleefstra syndrome based on subtelomeric FISH analysis. In conclusion, Kleefstra syndrome should be considered in the differential diagnosis of Down syndrome because it presents with very similar phenotypic features.

Acute myeloblastic leukemia in pregnancy: a case report and review of the literature.

Leukemia is a rare event during pregnancy. The presence of leukemia during pregnancy raises several concerns about the effect of pregnancy on the prognosis of leukemia, the effect of the disease on pregnancy outcome and the teratogenic and mutagenic effect of chemotherapeutic agents on the fetus. We report a case of acute myeloblastic leukemia diagnosed during the third trimester of gestation and treated with chemotherapeutic agents before delivery. The duration of pregnancy was able to be prolonged for four weeks after clinical diagnosis of the disease and then terminated by cesarean section due to the presence of signs of fetal distress.

Acute leukemia in pregnancy with ovarian metastasis: a case report and review of the literature.

Acute leukemias tend to affect a younger population and are much more common in pregnant patients than chronic leukemias are. We report a case of acute lymphoblastic leukemia diagnosed during the third trimester presenting with organomegaly and thrombocytopenia. Delivery of the fetus by cesarean section was decided because of the fulminant nature of the acute leukemia within days of admission. Bone marrow biopsy revealed acute lymphocytic leukemia, French American-British L2 subtype B cell immunotype. A left ovarian mass was identified during the cesarean section which later proved to be lymphoblastic infiltration. The patient was started on induction chemotherapy consisting of vincristine, daunorubicin, prednisolone, and l-asparaginase immediately after the diagnosis. The patient died of Acinetobacter septicemia 18 days after the first admission.

Intracranial venous thrombosis associated with severe antithrombin-III deficiency in pregnancy.

We report a patient with intracranial venous thrombosis in the third trimester of pregnancy associated with severe antithrombin-III deficiency. The evaluation of protein C, protein S and antithrombin-III levels in patients with thrombotic events during pregnancy may reveal the specific cause of the thrombotic event and thereby influence patient management

Primary pelvic hydatid cyst.

We report a case of hydatid cyst of the pelvis in a 36-year-old woman presented with right adnexal cystic mass with similar cystic lesions in the liver. Laparatomy revealed a right paraovarian cystic mass densely adhered to the uterus, to the pelvic side wall, and to the right fallopian tube. Histopathological examination of the cyst wall showed the cuticular layer of the cyst. Cystic liver lesion was later proved to be hepatic hemangioma by magnetic resonance imaging.

Single dose oral azithromycin versus seven day doxycycline in the treatment of non-gonococcal mucopurulent endocervicitis.

The aim of this study was to compare single dose oral azithromycin versus seven-day doxycycline in the treatment of non-gonococcal mucopurulent cervicitis (MPC). One hundred and thirty-one women with non-gonococcal MPC were enrolled in a prospective-randomised study to compare the efficacy and safety of a single oral dose of 1 g azithromycin and a seven-day course of 100 mg doxycycline twice daily. Clinical examination and culture samples for Chlamydia trachomatis and other microorganisms were performed before and approximately 14 days after starting the treatment. Of the 131 women recruited (67 in the azithromycin group and 64 in the doxycycline group), Ureaplasma urealyticum was isolated from 21 (16%); Chlamydia trachomatis from 15 (11.5%); and Mycoplasma hominis from 3 (2.3%) of the patients at the initial examination. The eradication rate of baseline culture-positive cases at the follow-up visit in the azithromycin group was 71.4%, and 77.3% in the doxycycline group. There was no statistically significant difference in efficacy between the single dose azithromycin and seven-day course of doxycycline in the treatment of culture-positive cases. Azithromycin 1 g appears to be an effective and safe alternative to doxycycline for the treatment of non-gonococcal MPC.

The comparison of uterine artery Doppler velocimetry with the histopathology of the placental bed.

We determined the relationship between the histopathological findings of the placental bed and Doppler flow measurements of the uterine artery in women with preeclampsia and fetal growth retardation. Doppler velocimetry in the uterine artery was evaluated in 17 pregnant women with preeclampsia, 15 of whom had fetal growth retardation, and 20 normal pregnant women, within 14 days of Caesarean delivery and placental bed biopsy. The placental bed biopsies were evaluated in terms of trophoblast migration into the myometrium and physiological changes of the spiral arteries. The results were compared with Doppler velocimetry values. Trophoblast migration and physiological changes were not detected in 10 (59%) cases with preeclampsia and in 4 (20%) with normal pregnancies (p<0.05). In the preeclamptic group, 9 of 15 cases that were complicated with intrauterine growth retardation had no trophoblastic migration into the myometrium. The mean systolic/diastolic ratio, resistance index and pulsatility index of the uterine artery in women with preeclampsia and fetal growth retardation was significantly higher than women with normal pregnancies (p<0.01). The mean resistance index of the uterine artery in the impaired migration group was significantly higher than the migration group (p=0.02). The incidence of impaired trophoblast migration was significantly higher in the group with a high systolic/diastolic ratio (above 2.5) and resistance index (above 0.58) than cases with low systolic/diastolic ratio and resistance index (72%, 23% respectively, p<0.05). The incidence of early diastolic notch in the impaired trophoblast migration group was significantly higher than the migration group (57% versus 13%, p<0.01). Our study supports the hypothesis that high uterine artery flow resistance is related to the reduced trophoblast migration into the myometrium and inadequate physiological changes in the spiral arteries in women with intrauterine growth retardation and preeclampsia.

Impaired antioxidant activity in women with pre-eclampsia.

OBJECTIVE: To investigate antioxidant activity of sera and the plasma blood levels of two potent antioxidant in women with pre-eclampsia and normotensive pregnancies. STUDY DESIGN: The antioxidant activity of sera and the blood levels of ascorbic acid and alpha-tocopherol were assayed in women with normal pregnancies (n = 33), mild pre-eclampsia (n = 8), and severe pre-eclampsia (n = 16) between 20 and 40 weeks' gestation. Ascorbic acid and alpha-tocopherol concentrations were analyzed by high-performance liquid chromatography. Antioxidant activity of sera was measured as the percent inhibition of spontaneous autoxidation of a standard brain homogenate. RESULTS: Plasma levels of ascorbic acid in women with mild and severe pre-eclampsia were significantly lower than normal pregnancies (P < 0.05). Sera alpha-tocopherol levels were significantly decreased only in severe pre-eclampsia (P < 0.05). Sera antioxidant activity were significantly decreased in mild (73%) and severe (51%) pre-eclampsia compared with normal (86%) pregnancies (P = 0.02, P = 0.000, respectively). CONCLUSIONS: In women with pre-eclampsia, sera antioxidant activity and antioxidant level of plasma are decreased when compared with normotensive pregnancies. Impaired antioxidant activity and the reduction of antioxidant levels which increase the level of lipid peroxidation products may cause peroxidative damage of vascular endothelium and result in clinical symptoms of pre-eclampsia.