The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant.

Introduction: Congenital disorders of glycosylation (CDG) are autosomal recessive hereditary genetic disorders characterized by abnormal glycosylation of N-linked oligosaccharides. Case Presentation: In this research, prenatal testing (24th week of pregnancy) revealed findings like polyhydramnios, hydrocephaly, abnormal facial features/shape, brain morphology abnormality, spina bifida, vertebral column abnormality, macrocephaly, scoliosis, micrognathia, abnormal kidney morphology, short fetal femur length, and short fetal humerus length in the fetus. Whole-exome sequencing was performed; the COG5 gene has shown a pathogenic variant. Discussion: Homozygous patients have never been seen before in the literature for COG5-CDG. We demonstrate the first CDG patient at fetus stage with homozygous COG5 c.95T>G variant.

Differences in pulmonary and extra-pulmonary characteristics in severely versus non-severely fatigued recipients of allogeneic hematopoietic stem cell transplantation: a cross-sectional, comparative study.

OBJECTIVES: Fatigue is a common symptom in allogeneic-hematopoietic stem cell transplantation (allogeneic-HSCT) recipients. However, effects of severe fatigue on pulmonary functions, blood cells, dyspnea, muscle strength, exercise capacity, depression and quality of life (QOL) in allogeneic-HSCT recipients are still unknown. Therefore, to compare pulmonary functions, blood levels, dyspnea, muscle strength, exercise capacity, depression, and QOL between allogeneic-HSCT recipients according to fatigue severity and to determine predictors of severe fatigue were aimed in the current study. METHODS: Twenty-four severe-fatigued (Fatigue Severity Scale score ≥36) (40.08 ± 12.44years) and 25 non-severe-fatigued (36.20 ± 13.73years) allogeneic-HSCT recipients were compared. Blood levels, pulmonary functions (spirometer), dyspnea (Modified Medical Research Council Dyspnea scale), exercise capacity (6-minute walk test), depression (Beck Depression Inventory-II), QOL (European Organization for Research and Treatment of Cancer QOL Questionnaire), respiratory (mouth pressure device) and peripheral muscle strength (dynamometer) were evaluated. RESULTS: Symptom QOL-subscale and depression scores were significantly higher; peripheral muscle strength, global health status, and functional QOL-subscales scores were lower in severe-fatigued recipients (p < 0.05) whose exercise capacity was clinically (28.85 m) decreased. Blood levels, pulmonary functions, dyspnea, and respiratory muscle strength were similar in groups (p > 0.05). 42.4% of the variance in severe fatigue was explained by symptom QOL-subscale score and corticosteroid use after HSCT (p < 0.001). CONCLUSIONS: Impairments in peripheral muscle strength, QOL, exercise capacity, and depression are more prevalent among severe-fatigued recipients. Moreover, poorer QOL and corticosteroid use after HSCT are most important predictors of severe fatigue. Effects of comprehensive exercise programs and psychosocial support for severe-fatigued recipients in late post-engraftment period should be investigated.

Increased levels of serum clusterin is associated with intrauterine growth restriction and adverse pregnancy outcomes in preeclampsia.

AIM: Our aim was to investigate serum clusterin levels in preeclampsia and to determine whether any changes in clusterin levels are useful in distinguishing the presence of concomitant intrauterine growth restriction (IUGR) and in predicting adverse pregnancy outcomes. METHODS: A prospective case-control study was carried out which included 86 pregnant women (47 patients with preeclampsia and 39 healthy controls). Maternal serum samples obtained from all participants and clusterin levels were determined by enzyme-linked immunosorbent assay (ELISA). RESULTS: Compared with controls, women with preeclampsia had significantly higher clusterin levels (mean 83.8±23.6 vs. 119.2±40.5, P<0.01). Further analysis revealed the highest clusterin levels were in patients with preeclampsia and IUGR (P<0.001). According to the receiver operating characteristic (ROC) analysis performed for the predictive value of clusterin levels for adverse maternal outcomes, the area under the curve (AUC) was 0.738 (95% CI: 0.616-0.859). The best clusterin cut-off value in predicting adverse maternal outcomes was 102.6 pg/mL with 75% sensitivity and 66% specifity. Multivariable logistic regression analysis revealed serum clusterin levels of >102.6 pg/mL was independently associated with preeclampsia (OR: 6.18, 95% CI: 2.41-15.9) and maternal adverse outcomes (OR: 5.13, 95% CI: 2.01-13.1) and also clusterin levels higher than 117.4 pg/mL were associated with adverse neonatal outcomes (OR: 5.02, 95% CI: 1.04-24.3). CONCLUSIONS: The current study suggests that increased levels of clusterin is associated with IUGR and probably predictive for adverse pregnancy outcomes in preeclampsia.

Placental ADAMTS-12 Levels in the Pathogenesis of Preeclampsia and Intrahepatic Cholestasis of Pregnancy.

Our aim was to determine whether placental A Disintegrin-like Metalloproteinase with ThromboSpondin motif 12 (ADAMTS-12), arylesterase (ARES) levels, total oxidant status (TOS), and total antioxidant status (TAS) differ in preeclampsia, intrahepatic cholestasis of pregnancy (ICP), and uncomplicated pregnancies or not. A prospective case-control study was carried out including 84 pregnant women (26 with ICP, 28 preeclamptic patients, and 30 healthy controls). Levels of ADAMTS-12, TAS, TOS, and ARES were studied in the supernatants of placental tissue homogenates. Placental ADAMTS-12 levels were distributed as 240.9 pg/mg in ICP, 289.7 pg/mg in preeclampsia, and 310.8 pg/mg in control groups. Levels of ADAMTS-12 (odds ratio = 6.509, 95% confidence interval:1.070-39.592, P = .042) in the placenta of the ICP were significantly lower than those in preeclampsia and control groups (P = .004), but no statistical significant difference was determined between preeclampsia and control groups. Decreased levels of placental ADAMTS-12 were found to be associated with ICP, suggesting a possible role of inflammation in the pathogenesis.

Evaluation of risk factors in women with puerperal genital hematomas.

AIM: Our aim was to assess the incidence and risk factors of the puerperal genital hematomas (PGH). METHODS: We retrospectively reviewed recorded cases of PGH at Zekai Tahir Burak Research and Training Hospital, Ankara, Turkey, between January 2010 and 2014. Next three patients were chosen as control group. RESULTS: There were 47 cases of PGH with an incidence of 1 in 762 deliveries. Patients with PGH were younger, more likely to be nulliparous and had a greater weight gain during pregnancy than the control group. Patients with PGH had a longer first and second stage of labor than the control group. Mediolateral episiotomy and operative delivery were more frequently performed in patients with PGH than the control group. Neonates born to mothers with PGH were heavier than the control group (3525 ± 428 versus 3325 ± 579; p = 0.031). In the logistic regression model, nulliparity (OR: 8.68, 95% CI = 2.96-25.3), instrumental delivery (OR: 7.96, 95% CI = 1.37-49.0) and mediolateral episiotomy (OR: 6.67, 95% CI = 2.61-17.1) were factors which had an independent impact on risk of PGH. CONCLUSIONS: Nulliparity, instrumental delivery and mediolateral episiotomy are the main risk factors for hematomas.

Non-puerperal uterine inversion due to submucous myoma in a woman: a case report.

Uterine leiomyomas are the most common benign tumor of the female reproductive tract. Their incidence during pregnancy is approximately 2 percent and they are associated with some complications such as preterm labor, placental abruption, fetal malpresentation, obstructed labor, cesarean delivery, and postpartum hemorrhage. They may develop anywhere within the muscular wall of the uterus, including submucosal, intramural, or subserosal areas. Some of the submucous myomas may be pedunculated and eventually may protrude through the cervical canal to the vagina. They later become necrotic and sometimes infected. Vaginal myomectomy is recommended as the initial treatment of choice for a prolapsed, pedunculated myoma except when other indications require an abdominal procedure. Inversion is a condition in which the uterus turns inside out with prolapse of the fundus through the cervix. It is seen in acute and chronic forms. Chronic inversion may follow an incomplete obstetric inversion unnoticed or left uncared. Herein, we present, a case of infected non-puerperal uterine inversion due to submucous leiomyoma that was originating from fundus and the diagnostic dilemma it presents in the after puerperal stage.

Serum Thiol/Disulphide Homeostasis in Preeclampsia.

OBJECTIVE: To determine the serum thiol/disulphide homeostasis in preeclampsia and to investigate the association with clinical parameters. METHODS: Forty-three pregnant women with preeclampsia and 43 healthy, uncomplicated pregnancies were included in the study. Native thiol, disulphide, and total thiol concentrations were measured by a novel automated method. RESULTS: The serum native and total thiol levels were significantly lower in preeclampsia when compared with the healthy group (p < 0.001). There were significant correlations among the homeostatic parameters and preeclampsia. CONCLUSION: Serum thiol/disulphide homeostasis may have a role in the pathogenesis and can be evaluated with the clinical and laboratory findings of preeclampsia.

Immediate postplacental insertion of a copper intrauterine device: a pilot study to evaluate expulsion rate by mode of delivery.

BACKGROUND: The present study aimed to investigate risk factors for expulsion in immediate postplacental IUD insertion. We specifically sought to determine whether cesarean delivery before or during labor have an impact on IUD expulsion. METHODS: The study included 160 pregnant women for immediate IUD insertion following vaginal or cesarean delivery. Three groups of patients were recruited: Patients who underwent pre-planned cesarean delivery (group 1, n: 51), patients who underwent cesarean delivery during active labor (group 2, n: 47), patients who delivered vaginally (group 3, n: 62). RESULTS: The cumulative expulsion rates were similar with a frequency of 8.7, 8.9 and 11.3% respectively in groups 1 to 3 (p > 0.05 in all pairwise comparisons). The rate of patients who had the IUD removed at 12th month was 4,3, 6.7 and 11.3% for groups 1, 2 and 3 respectively (p > 0.05 in all pairwise comparisons). Multiparity increased the risk of cumulative expulsion within 12 months by 2.1 fold (95% 1,03-4,37) in the logistic regression model. Previous vaginal deliveries or IUD use did not have an impact on the expulsion of the IUD. The risk of spontaneous expulsion was similar in patients whose IUD was placed after cesarean in the active and latent phase or after spontaneous vaginal delivery. CONCLUSIONS: The rates of IUD expulsion are similar in patients who underwent cesarean section before and during labor and who delivered vaginally. Parity was the only factor independently associated with IUD expulsion.

Acute physiological responses to physiotherapy applications pre and post autologous stem cell transplantation: an experimental study.

OBJECTIVE: We aimed to investigate the acute physiological responses (APR) to physiotherapy applications in patients undergoing autologous stem cell transplantation (ASCT), the difference between pre- and post-ASCT according to APR. METHODS: Twenty-six patients who were hospitalized for ASCT attended regular physiotherapy program. APR was recorded in the beginning and at the end of each exercise session. The differences in APR were calculated for each session. The mean values of the differences in APR were computed in pre-conditioning, pre-, and post-ASCT. Daily complete blood counts were also recorded during ASCT. RESULTS: Hemoglobin and platelet counts were significantly lower pre- and post-ASCT. Neutrophil counts were significantly lower post-ASCT. The difference in systolic blood pressure (SBP) in the beginning and at the end of the exercise sessions was significantly higher post-ASCT in comparison to pre-ASCT. CONCLUSION: There was no significant change in APR except the SBP which suggests that similar level of exercise intensity could be tolerated in pre- and post-ASCT periods as well as preconditioning.

The positive impact of regular exercise program on stem cell mobilization prior to autologous stem cell transplantation.

AIM: The present study was planned to determine the effects of regular exercise program on hematopoietic stem cell (HSC) mobilization prior to autologous stem cell transplantation. METHOD: Twenty-two consecutive patients were enrolled in the study. A regular 20 min exercise program was administered to the patients. The hematopoietic stem cell mobilization outcome, number of Granulocyte Colony-Stimulating Factor (G-CSF) and aphaeresis application days were compared with 20 case-matched controls who did not receive exercise program during HSC mobilization. RESULTS: The median number of CD34(+) stem cells collected in the exercise and control groups were 8.15 × 10(6)/kg (range: 2.85-33.06 × 10(6)/kg) and 7.3 × 10(6)/kg (range: 1.78-25.9 × 10(6)/kg), respectively (p=0.696). G-CSF was administered for a median of 8 days (range, 5-10) in the exercise group and 8 days (range, 5-12) in the control group (p=0.848). The median apheresis duration was 1 day (range, 1-3) in both exercise and control groups (p=0.226). CONCLUSION: Exercise seems to have a positive impact on stem cell mobilization though without statistical significance.

Comparison of nulliparas undergoing cesarean section in first and second stages of labour: a prospective study in a tertiary teaching hospital.

Objective. We performed a prospective observational audit study to compare neonatal and maternal outcomes of the primary cesarean sections performed in first stage versus second stage of labour. Methods. One thousand three hundred and eighty-nine nullipara women who had undergone cesarean section in a tertiary teaching hospital between February 1, 2009 and January 31, 2010 were included in the study. Primary maternal outcomes of interest were uterine atonia, transfusion requirement, urinary system injury, requirement for hysterectomy, and duration of hospital stay. Results. A total of 1389 women underwent cesarean section at this 12 month time period. Of these 1389 cesarean sections, 1271 were in the first stage of the labour and 171 were in the second stage of the labour. Urinary injuries, transfusion requirement, and uterine atonia hysterectomy were significantly more frequent in women who underwent cesarean section in the second stage of the labour compared to women undergoing cesarean section in the first stage of the labour. Conclusion. Cesarean section in the second stage of the labour is associated with increased maternal and neonatal morbidities. Special attention is required to the patients undergoing cesarean section in the second stage of the labour.

Immediate postplacental insertion of an intrauterine contraceptive device during cesarean section.

BACKGROUND: An intrauterine device (IUD) is an effective reversible form of contraception. We determined the efficacy and safety of immediate postplacental IUD insertion during cesarean section. STUDY DESIGN: Two hundred forty-five women with term pregnancies delivering by cesarean section between September 2006 and December 2007 were included in the study. A copper IUD (TCu 380A) was inserted using a ring forceps within 10 min of removing the placenta. The participants were examined before hospital discharge and at 6 weeks, 6 months and 12 months postpartum. RESULTS: None of the patients were lost to follow-up. There was one case of an unplanned pregnancy (0.4%). There were no serious complications associated with immediate IUD insertion during cesarean section. The cumulative rates of expulsion, removal for bleeding/pain and other medical reasons were 17.6, 8.2 and 2.4 per 100 women per year, respectively. The continuation rates were 81.6% and 62% at 6 and 12 months, respectively. CONCLUSION: Immediate postplacental IUD insertion during cesarean section provides adequate protection against pregnancy. However, greater than one fourth of the participants discontinued IUD use due to spontaneous expulsion or other medical reasons.

Metformin regresses endometriotic implants in rats by improving implant levels of superoxide dismutase, vascular endothelial growth factor, tissue inhibitor of metalloproteinase-2, and matrix metalloproteinase-9.

OBJECTIVE: We sought to test if metformin could regress endometriotic explants in rats. STUDY DESIGN: After inducing endometriotic implants and randomization of female Wistar albino rats, they were given 25 and 50 mg/kg/day of oral metformin in group A (n = 9) and B (n = 8), respectively, for 28 days. Group C (n = 9) was given saline as placebo. RESULTS: Mean volume, weight, and histologic score of implants in groups A (P < .01, P < .05, and P < .05, respectively) and B (P < .01, P < .05, and P < .05, respectively) were significantly lower than in group C. The activity of superoxide dismutase and tissue inhibitor of metalloproteinase-2 staining in groups A (P < .05 and P < .01, respectively) and B (P < .01 and P < .01, respectively) was significantly higher than in the control group. Moreover, there were more significant reductions in implant levels of vascular endothelial growth factor and matrix metalloproteinase-9 in groups A (both P < .001) and B (both P < .001) than in group C. CONCLUSION: Metformin causes regression of endometriotic implants in rats.

Prolongation of triplet pregnancy after abortion of the presenting fetus.

BACKGROUND: The management of delayed delivery in a triplet pregnancy is described. CASE: A 25-year-old woman with an in vitro fertilization pregnancy aborted the presenting fetus at 19th gestational week. As she decided to carry on, cervical cerclage, tocolysis and antimicrobial prophylaxis were performed. The remaining fetuses survived until 29th gestational week. CONCLUSION: Prolongation of multiple pregnancies after the abortion of presenting fetuses is a possible approach, which is especially justified in women with a history of infertility.

The role of thrombocytosis in prognostic evaluation of epithelial ovarian tumors.

BACKGROUND: Thrombocytosis has been reported in a variety of solid tumors, including certain gynecologic cancers such as endometrial, vulvar, and cervical cancers. The present study aims to determine the incidence of thrombocytosis in women with epithelial ovarian tumors and to evaluate its association with clinical and pathologic prognostic factors. MATERIAL AND METHODS: Between January 2001 and December 2006, 292 patients were diagnosed with epithelial ovarian tumors, and they underwent primary surgical treatment and subsequent platinum-based chemotherapy at the Gynecologic Oncology Department of the study center. The medical records of these patients were evaluated retrospectively. RESULTS: Of the 292 women with epithelial ovarian tumors undergoing primary surgical exploration, 124 (42.5%) had thrombocytosis, indicating platelet counts >400 x 10(9)/l. Patients with thrombocytosis were found to have statistically higher levels of preoperative CA-125 levels, more advanced stage disease, higher grade tumors, and shorter periods of survival. Thrombocytosis is a significant negative prognostic factor for survival in patients with epithelial ovarian tumors. CONCLUSIONS: Thrombocytosis is frequently detected in preoperative evaluation of women diagnosed with epithelial ovarian tumors. The data obtained by the previous and present studies suggest that thrombocytosis is associated with factors reflecting a more aggressive tumor biology, and predicting poor survival in women with epithelial ovarian tumors. However, these data are limited by the retrospective nature of the studies and do not confirm a casual relationship between thrombocytosis and tumor behavior. Molecular studies investigating the expression of platelet secretory factors are required to clarify the differences among data provided by the literature.

Alterations in the 'local umbilical cord blood renin-angiotensin system' during pre-eclampsia.

BACKGROUND: Local autocrine-paracrine renin-angiotensin system (RAS), independently functioning from the circulating RAS, is present in major organs of the female reproductive tract. We have previously demonstrated 'a local RAS in human umbilical cord' via verifying the corresponding ACE, renin, and angiotensinogen mRNAs. The aim of this study is to search alterations of the local umbilical cord RAS during pre-eclampsia. METHODS: Cord blood samples were obtained from 19 patients with pre-eclampsia (aged mean 26.6 ± 5.83 (range 18-42) years) and 20 women with normal pregnancy (aged mean 28.26 ± 7.30 (range 19-37) years). Women with uncomplicated pregnancy formed the control group. Real time quantitative PCR analysis for ACE, renin and angiotensinogen gene expressions were carried out using a LightCycler™ instrument. RESULTS: The mean expression ratios were 0.0029 ± 0.0015 for renin, 0.153 ± 0.166 for angiotensinogen, and 0.220 ± 0.294 for ACE, in control samples. The mean expression ratios of pre-eclamptic patients were 0.0061 ± 0.00068, 0.035 ± 0.008, and 0.030 ± 0.006 for renin, angiotensinogen and ACE genes, respectively. While renin expressions increased in the local cord blood of pre-eclampsia in comparison to the normal cord blood, unpredictable decrements in the angiotensinogen and ACE expressions were observed within the same pre-eclamptic samples. There were no statistically significant differences between intrauterine growth restriction (IUGR) and appropriate for gestational age (AGA) newborns in respect to renin, angiotensinogen and ACE gene expressions. CONCLUSIONS: These findings indicate that the gene expression in the major components of the local RAS does not represent a constant mathematical model, but is affected from the ongoing pathobiological events associated with the disease course. Local umbilical cord blood RAS alterations at the basis of genetic expression are evident in pre-eclampsia.

Increased global fibrinolytic capacity as a clue for activated fibrinolysis in pre-eclampsia.

The aim of this study was to compare fibrinolysis in normal pregnancy and pre-eclampsia using individual markers of thrombosis and fibrinolysis with the contribution of a new parameter, global fibrinolytic capacity. Coagulation was determined with thrombin-antithrombin complex and prothrombin fragment 1+2 (F 1+2) and fibrinolysis markers. Tissue plasminogen activator, plasminogen activator inhibitor-1 and global fibrinolytic capacity were determined in 14 normal pregnancies and 29 women with pre-eclampsia. global fibrinolytic capacity was also determined in 14 age-matched healthy women. The Mann-Whitney U test and Pearson correlation test were used for statistical analysis. Thrombin-antithrombin complex, prothrombin fragment 1+2 levels, and global fibrinolytic capacity levels in pre-eclamptic women were significantly higher than in women with normal pregnancies (P < 0.05). Tissue plasminogen activator, plasminogen activator inhibitor-1 levels were also significantly higher in the pre-eclampsia group (P < 0.001 and P < 0.05 respectively). No significant correlation was found between global fibrinolytic capacity and thrombin-antithrombin complex, prothrombin fragment 1+2 levels, tissue plasminogen activator or plasminogen activator inhibitor-1 activity. Our results suggest that both thrombin formation and fibrinolysis are increased in pre-eclampsia compared with normal pregnancy. The increased global fibrinolytic capacity indicates that fibrinolysis remains preserved in pre-eclampsia. We suggest that global fibrinolytic capacity may be a useful parameter for accurately measuring in-vivo fibrinolysis globally, instead of with single parameters which may overlook the complex interactions between coagulation and fibrinolytic systems.

Application of FFT-analyzed umbilical artery doppler signals to fuzzy algorithm.

Doppler signals, recorded from the umbilical artery of 60 women with pregnancy, were transferred to personal computer via a 16-bit sound card. The fast Fourier transform (FFT) method was applied to the recorded signal from each patient. Because FFT method inherently cannot offer a good spectral resolution at highly turbulent blood flows, it sometimes causes wrong interpretation of Doppler signals. In order to avoid this problem, umbilical artery Doppler blood flow velocity parameters were introduced to a fuzzy algorithm. It is observed that the fuzzy algorithm gives true results for interpretation of umbilical artery blood flow velocity parameters. Forty-five blood flow velocity parameters of 60 women with pregnancy and 15 parameters in training data have been used in a fuzzy system as testing data. The overall success ratio in training data and the testing data were 95.55 and 93.35% respectively.

Clinical outcomes of early postplacental insertion of intrauterine contraceptive devices.

OBJECTIVES: To assess the efficacy, safety and, thus, advantages and disadvantages, of early postplacental intrauterine device (IUD) insertion. METHODS: IUDs were inserted within 10 min after postplacental expulsion in term pregnancy both in vaginal and cesarean deliveries via a ring forceps. Of the 276 patients enrolled, 235 were included in the study. Recipients were scheduled for examination before hospital discharge and at 6 weeks, 6 months and 12 months after postplacental insertion. RESULTS: The percentages of women returning for a follow-up visit were 221 (94%), 210 (89%) and 183 (78%) at 6 weeks, 6 months and 12 months, respectively. Among IUD acceptors, 74% of the cases had vaginal deliveries and 26% had cesarean deliveries. Continuation rates were relatively high, 87.6% and 76.3%, at 6 and 12 months, respectively, after postplacental insertion of IUD. In this study, the 1-year cumulative expulsion rate with TCu 380A device was 12.3%, which may be regarded as a standard expulsion rate for immediate postplacental insertion of similar models of IUDs. CONCLUSION: The evidence from this study suggests that immediate postplacental insertion of CuT 380 models is an effective, useful, safe, convenient and low-cost procedure for early postpartum contraception.