SUCCESSFUL PREGNANCY OUTCOME IN PATIENT WITH NIEMANN-PICK DISEASE TYPE B AND REVIEW OF THE LITERATURE.

Niemann-Pick disease (NPD), is a rare autosomal recessive lysosomal storage disorder. Niemann-Pick A and B are caused by homozygous or compound heterozygous mutations in the sphingomyelin phosphodiesterase-1 (SMPD1) gene on chromosome 11p15. Type B is panethnic, although its frequency is increased in Turkish, Arabic and North African populations. Clinical features vary significantly among patients. It is a rare condition and information about its management an outcome during pregnancy and labor is limited. Both maternal mortality and morbidity due to severe postpartum hemorrhage has been reported. We represent a case of successful pregnancy outcome in patient with NPD type B. Type of mutations in SMPD 1 gene and severity of disease before pregnancy can predict the prognosis of pregnancy.

Does adenosine deaminase activity play a role in the early diagnosis of ectopic pregnancy?

Early diagnosis of ectopic pregnancy (EP) is important due to life-threatening consequences in the first trimester of pregnancy. In this study we aimed to investigate the role of adenosine deaminase (ADA) activity in the prediction of EP. Forty-one patients with unruptured ectopic pregnancy comprised the case group and forty-two first trimester pregnant women with shown foetal heart beating in ultrasound comprised the control group. The mean ADA level in EP (10.9 ± 3.0 IU/L) was higher than that in control group (9.2 ± 3.6 IU/L) (p = 0.018). Receiver operating characteristics or ROC curve identified ADA value of 10.95 IU/L as optimal threshold for the prediction of EP with 56% sensitivity and 67% specificity. High ADA levels are valuable in the early diagnosis of EP. However more comprehensive studies are required.

Can plateletcrit, an underestimated platelet parameter, be related with preterm labour?

OBJECTIVE: Noninvasive and simple markers are needed for the prediction of preterm delivery in women at risk for preterm labour. The aim of this study was to determine the value of platelet indices in the prediction of preterm delivery. DESIGN: A retrospective study. SETTING: Routine antenatal care in Zonguldak Bülent Ecevit University between 2008 and 2011. SAMPLE: Ninety patients who delivered between 28 and 37 weeks of gestational age and 128 patients who delivered at term. METHODS: Plateletcrit and other haematological markers, cervical dilatation and effacement, and the neutrophil-to-lymphocyte ratio as an inflammation marker. MAIN OUTCOME MEASURE: The role of platelet indices in predicting the preterm delivery. RESULTS: The platelet count, plateletcrit, white blood cell count, red cell distribution width, and neutrophil count were significantly higher in the preterm delivery group. Receiver operating characteristic curve analysis showed that the plateletcrit cut-off value for predicting spontaneous preterm labour was 0.201%, with a sensitivity of 95.6% and specificity of 87.5%; the cut-off value for the platelet count was 234 ? 103/mm3 with a sensitivity of 81.0% and specificity of 71.0%. CONCLUSION: Plateletcrit is a low-cost, widely available, and noninvasive marker that might be used for the prediction of preterm delivery in patients with a history of preterm labour.

Is it necessary to operate on all women with an acute abdomen following medical treatment of tubal ectopic pregnancy?

The main objective of this retrospective study is to evaluate the question of whether it is necessary to perform surgery for patients who develop an acute abdomen after methotrexate administration in cases of tubal ectopic pregnancy. A total of 26 women with tubal ectopic pregnancy who required emergency surgical evaluation after a single dose of methotrexate treatment were included. The surgical findings were tubal abortion (10 cases, 38.4%); tubal rupture (12 cases, 46.2%) and tubal haematoma (4 cases, 15.4%). The average time for initiation of severe abdominal pain following single dose methotrexate treatment was 6.12 +/- 2.10 days (range, 2-10). The most common site of implantation was isthmus (50.0%) and 38.5% (five patients) of the patients had tubal abortion from this part of the tube, while 46.1% of women (six patients) with isthmic localisation had a tubal rupture. Following medical treatment of ectopic pregnancy, surgery may be an option in the presence of symptoms/signs of acute abdomen (in the presence or absence of haemodynamic instability) and free pelvic fluid on sonography for only patients with isthmic tubal ectopic pregnancy, or if the isthmic localisation of tubal ectopic pregnancy is suspected on sonography.

Partial trisomy due to a de novo duplication 22q11.1-22q13.1: a cat-eye syndrome variant with brain anomalies.

We report a case of partial trisomy 22q with de novo duplication of chromosomal region 22q11.1-22q13.1, also confirmed by microarray comparative genomic hybridization (Array-CGH) analysis. The fetus had interhemispheric cyst and corpus callosum agenesis diagnosed by MRI which has not been reported in the literature. This novel phenotype differs from the reported cat eye syndromes by the absence of heart defects and the presence of brain anomalies.

Cigarette smoking and pregnancy: results of a survey at a Turkish women's hospital in 1,020 patients.

We aimed to investigate the level of knowledge about the effects of cigarette smoking and status before and during pregnancy. The study was performed on 1,020 pregnant women who attended the clinic for a routine visit. The questionnaire consisting of questions about sociodemographic data, smoking habits and knowledge about harmful effects of smoking on fetus (miscarriage, intrauterine growth retardation, pre-term birth, fetal mortality-morbidity, postpartum infant death, pre-term premature rupture of membranes, lung disease, attention deficit) was administered. Data were analysed by SPSS 10.0 using chi(2)-test and binary regression analysis. Mean age was 26.3 years. Smoking rates before and after pregnancy were 34.7% and 14%, respectively. Passive smoking was seen in 69.2%. The number of cigarettes smoked before pregnancy had a significant impact on continuation of smoking during pregnancy [OR (95% CI) 29.94 (12.88-69.64)]. For passive smoking at home for a young age [OR (95% CI) = 1.33 (1.01-1.76)] had a positive impact and university education [OR (95% CI) = 0.40 (0.24-0.67)] had a negative impact. Most pregnant women (97.5%) knew smoking was harmful. Awareness of intrauterine fetal death as a harmful effect was the single most important factor associated with quitting active and passive smoking. Despite some level of knowledge of pregnant women regarding adverse effects of smoking, there is a strong need for education on quitting smoking during pregnancy. Prevention of passive smoking should have the highest priority.