Holt Oram syndrome: a case report and review of the literature.

Holt Oram syndrome is a rare autosomal dominant syndrome on average, of varying severity, which may result in heterogeneous pictures, predominantly with involvement of the bony segments of the upper limbs and the cardiovascular system. The syndrome is caused by mutations in two genes of the T-box (TBX5, 601 620 and TBX 3) located on the 12q24.1p. The authors report a case and review the literature.

Estimation of prenatal aorta intima-media thickness from ultrasound examination.

Prenatal events such as intrauterine growth restriction and increased cardiovascular risk in later life have been shown to be associated with an increased intima-media thickness (aIMT) of the abdominal aorta in the fetus. In order to assess and manage atherosclerosis and cardiovascular disease risk in adults and children, in recent years the measurement of abdominal and carotid artery thickness has gained a growing appeal. Nevertheless, no computer aided method has been proposed for the analysis of prenatal vessels from ultrasound data, yet. To date, these measurements are being performed manually on ultrasound fetal images by skilled practitioners. The aim of the presented study is to introduce an automatic algorithm that identifies abdominal aorta and estimates its diameter and aIMT from routine third trimester ultrasonographic fetal data.The algorithm locates the aorta, then segments it and, by modeling the arterial wall longitudinal sections by means of a gaussian mixture, derives a set of measures of the aorta diameter (aDiam) and of the intima-media thickness (aIMT). After estimating the cardiac cycle, the mean diameter and the aIMT at the end-diastole phase are computed.Considering the aIMT value for each subject, the correlation between automatic and manual end-diastolic aIMT measurements is 0.91 in a range of values 0.44-1.10 mm, corresponding to both normal and pathological conditions. The automatic system yields a mean relative error of 19%, that is similar to the intra-observer variability (14%) and much lower that the inter-observer variability (42%).The correlation between manual and automatic measurements and the small error confirm the ability of the proposed system to reliably estimate aIMT values in prenatal ultrasound sequences, reducing measurement variability and suggesting that it can be used for an automatic assessment of aIMT.

Immunohistochemical evaluation of epithelial antigen Ber-Ep4 and CD10: new markers for endometriosis?

BACKGROUND: Early and certain diagnoses of endometriosis are mandatory to begin the correct treatment and to exclude the risk of endometriosis-associated ovarian carcinoma (EOC) and endometrial stromal sarcoma (ESS). PURPOSE OF THE STUDY: To assess the immunohistochemical expression of Ber-Ep4, an epithelial antigen, and CD10 in endometriosis. MATERIALS AND METHODS: Forty-eight women underwent laparoscopic surgery for endometriosis and endometriotic samples were recovered for histology. In all surgical specimens Ber-Ep4 and CD10 were searched by an immnohistochemical method. The authors evaluated the correlations among the immunohistochemical positivity and the location of endometriosis. RESULTS: Most cases (40/48 83.34%) were represented by ovarian endometriotic cyst. Among the eight remaining cases, three (3/48, 6.25%) were pelvic endometriotic lesions, two (2/48, 4.17%) peritoneum of vesico-uterine pouch, one vaginal lesion (2.08%), one salpinx lesion (2.08%), and one inguinal location (2.08%). Ber-Ep4 and CD10 were expressed in 90% and in 100% of the ovarian lesions, respectively. In pelvic lesions Ber-Ep4 and CD10 showed both 66.67% of positivity and had the same pattern in peritoneal, salpinx, vaginal, and inguinal lesions (50%, 100%, 100%, 100%, respectively). Ber-Ep4 was negative in 6/48 (12.5%) cases whereas CDO10 was negative in 2/48 (4.17%) cases of endometriosis. The sensitivity of Ber-Ep4 and CD10 for endometriosis diagnosis were 87.50% and 95.83%, respectively. Immunohistochemistry for Ber-Ep4 showed positivity in all cases of endometriosis with typical cubic epithelium, whereas CD10 was positive in 1/2 (50%) atypical case. CONCLUSION: Immunohistochemical expression of Ber-Ep4 and CD10 was positive in most cases of endometriosis and was useful in differential diagnosis with mesothelial cysts. Ber-Ep4 was negative in cases of hyperplastic epithelium or cytological atypia; these cases are not well-differentiated and could be optimally treated by surgery and not by hormonal therapy because of the risk of cancer degeneration.

Comparison between transvaginal sonography, saline contrast sonovaginography and magnetic resonance imaging in the diagnosis of posterior deep infiltrating endometriosis.

OBJECTIVE: To compare clinical evaluation, transvaginal sonography (TVS), saline contrast sonovaginography (SCSV) and magnetic resonance imaging (MRI) in the diagnosis of posterior deep pelvic endometriosis (DPE). METHODS: Women suspected of having posterior DPE on the basis of subjective symptoms and clinical evaluation underwent digital vaginal and rectal examination, TVS, SCSV and MRI. Laparoscopy was performed and specimens were sent for histological examination. Sensitivity, specificity, positive and negative predictive value, as well as positive and negative likelihood ratios were analyzed for each diagnostic method. RESULTS: Fifty-four out of 102 women suspected of having posterior DPE underwent laparoscopic surgery. Among these, in 46 (85.2%) cases DPE was confirmed at laparoscopic and histological examination. SCSV correctly identified 43 (93.5%) cases, presenting higher accuracy than did the other procedures. SCSV and MRI were more accurate in diagnosing and discriminating between the different locations of endometriotic lesions, with respective sensitivities of 94.7 and 73.1% for vaginal fornix, 88.9 and 66.7% for the uterosacral ligaments and 80.6 and 83.3% for involvement of the rectovaginal septum. The specificity of SCSV and MRI, respectively, was 97.1 and 94.3% for vaginal fornix, 95.6 and 95.6% for uterosacral ligaments and 100 and 77.8% for involvement of the rectovaginal septum. In the diagnosis of rectal endometriosis, we found a sensitivity of 66.7% for both techniques and specificity of 93.8% for SCSV and 95.8% for MRI. CONCLUSION: TVS should be used as the first-line diagnostic technique and SCSV and/or MRI as second-line methods in the diagnosis of posterior DPE.

Preterm premature rupture of membranes, chorioamnion inflammatory scores and neonatal respiratory outcome.

OBJECTIVE: To evaluate whether histological chorioamnionitis (HCA), in the setting of preterm premature rupture of membranes (PPROM), affects infant respiratory outcome. DESIGN: A prospective histological study on 287 consecutive placentas was performed in preterm infants (

Mean platelet volume: association with adverse neonatal outcome.

The aim of the study was to investigate on a possible association between maternal mean platelet volume (MPV) and oxygen-metabolic changes in pregnancies affected by altered maternal-fetal Doppler velocimetry. We considered the altered maternal-fetal Doppler velocimetry group (n = 57) pregnant women admitted to our Institution for a pregnancy complication associated to the event Pre-eclampsia (PE) and intrauterine growth retardation (IUGR), with altered Doppler velocimetry in the umbilical artery ( UA) (high pulsatility index, absence or reverse end diastolic flow (ARED), blood flow cephalisation) and/or bilateral increased resistance in uterine arteries. Out of these cases, 25 pregnancies were complicated by PE and 32 pregnancies were complicated by IUGR. We included 145 normotensive third trimester pregnant women as a normal maternal-fetal Doppler velocimetry control group. From all women, 20 ml of whole venous blood was obtained from the antecubital vein soon after Doppler velocimetry evaluation. MPV was significantly higher in women with abnormal Doppler velocimetry compared to those with normal Doppler velocimetry (8.0 fl [7.0-8.7] vs. 9.1 fl [8.0-10.6], <0.001. Values are median [interquartiles]). We performed a ROC curve in order to find an MPV cut-off able to predict an uneventful event in Doppler velocimetry compromised fetuses (neonatal O(2) support > 48 hrs or intubation and/or pH < 7.2 at umbilical blood gas analysis (UBGA)). An MPV > or = 10 fl was significantly related to the former diagnostic endpoints compared to that of non-compromised fetuses (sensitivity: 45%, specificity: 89.7%, 95 CI: 18.8-66, p < 0.01). Our study suggests that pregnancies affected by Doppler velocimetry alterations, an MPV value > or = 10 fl may be associated with severe oxygen support and/or low UA ph at birth.

Nuchal translucency as a predictor of adverse pregnancy outcome.

BACKGROUND: Thickened nuchal translucency (NT) has been related to fetal genetic syndromes, structural abnormalities, and other diseases. The aim of this research was to evaluate the association of NT with adverse pregnancy outcomes. STUDY DESIGN: In the period 2002-2004 in 2104 pregnant women between 10+6 and 13+5 weeks' gestation, NT was evaluated as a parameter for aneuploidy screening: out of these, 734 singleton pregnant women that underwent 2nd trimester amniocentesis and whose pregnancy outcome were known were selected. NT was statistically correlated to pregnancy and neonatal outcome. RESULTS: Median gestational age (GA) at NT evaluation was 11+2 weeks' gestation. NT median was 1.1 mm (0.9-1.4 mm, 25th-75th centile, range 0.5-4.0 mm). After multiple logistic regressions, the variables significantly associated to NT values were: threatened preterm labor (p<0.008) and preterm labor (p<0.02). The best diagnostic accuracy point was NT>95th centile and >1.5 MoM for the prediction of threatened preterm labor. CONCLUSION: In this series, increased NT values were associated to threatened preterm labor and preterm labor in euploid fetuses: this finding may have clinical consequences in the management of such pregnancies.

Doppler velocimetry alterations related to platelet changes in third trimester pregnancies.

The aim of this study was to evaluate the correlations between the haematological parameter mean platelet volume and Doppler velocimetry parameters in order to improve clinical management in third trimester complicated pregnancies (pre-eclampsia, PE, and IUGR) affected by altered uterine resistances. Fifty-one patients were included in the abnormal uterine arteries Doppler velocimetry group (25 pregnancies were complicated by PE, 26 pregnancies were complicated by IUGR). Ninety-nine normotensive pregnant women taking no drugs for at least 2 weeks prior to testing and with no difference in gestational age at evaluation, with normal Doppler velocimetry profiles at routine screen, were used as controls. From all pregnant women, 20 mL of whole blood were obtained into citrate tubes after Doppler velocimetry evaluation and analysed for red blood cell counts (RBC), mean corpuscular volume (MCV), haemoglobin (HGB), haematocrit level (HCT), white blood cells count (WBC), platelet counts (PLT), mean platelets volume (MPV) and other biochemical parameters. From all blood parameters studied, MPV was significantly higher in women with altered uterine artery Doppler velocimetry compared with those with normal Doppler profiles (9.4 +/- 1.0 vs. 8.05 +/- 1.2 fL, P<0.001). In the group with altered uterine artery Doppler velocimetry, pregnancies complicated by PE showed a MPV value higher than pregnancies affected by IUGR (9.5 +/- 1.6 vs. 8.9 +/- 1.1, P<0.001). Finally, mean uterine arteries RI values were significantly related to MPV (fL) in both PE and IUGR groups (P<0.01, r=0.37 and P<0.01, r=0.38, respectively). Our study shows that a periodical monitoring of haematological parameters such as MPV can be associated to Doppler velocimetry in order to improve the management of pregnancies with uterine arteries Doppler velocimetry alterations.

Middle cerebral artery peak systolic velocity: a new Doppler parameter in the assessment of growth-restricted fetuses.

OBJECTIVE: The aims of this study were to determine if there is a relationship between middle cerebral artery (MCA) peak systolic velocity (PSV) and perinatal mortality in preterm intrauterine growth-restricted (IUGR) fetuses, to compare the performance of MCA pulsatility index (PI), MCA-PSV and umbilical artery (UA) absent/reversed end-diastolic velocity (ARED) in predicting perinatal mortality, to determine the longitudinal changes that occur in MCA-PI and MCA-PSV in these fetuses, and to test the hypothesis that MCA-PSV can provide additional information on the prognosis of hypoxemic IUGR fetuses. METHODS: This was a retrospective cross-sectional study of 30 IUGR fetuses (estimated fetal weight < 3(rd) percentile; UA-PI > 95% CI) in which the last MCA-PI, MCA-PSV and UA values were obtained within 8 days before delivery or fetal demise. Among the 30 fetuses, there were 10 in which at least three consecutive measurements were performed before delivery and these were used for a longitudinal study. MCA-PSV and MCA-PI values were plotted against normal reference ranges and were considered abnormal when they were above the MCA-PSV or below the MCA-PI reference ranges. RESULTS: Gestational age at delivery ranged between 23 + 1 and 32 + 5 (median, 27 + 6) gestational weeks. Birth weight ranged from 282 to 1440 (median, 540) g. There were 11 perinatal deaths. Forward stepwise logistic regression indicated that MCA-PSV was the best parameter in the prediction of perinatal mortality (odds ratio, 14; 95% CI, 1.4-130; P < 0.05) (Nagerlke R(2) = 31). In the 10 fetuses studied longitudinally, an abnormal MCA-PI preceded the appearance of an abnormal MCA-PSV. In these fetuses, the MCA-PSV consistently showed an initial increase in velocity; before demise or the appearance of a non-reassuring test in seven fetuses, there was a decrease in blood velocity. The MCA-PI presented an inconsistent pattern. CONCLUSIONS: In IUGR fetuses, the trends of the MCA-PI and MCA-PSV provide more clinical information than does one single measurement. A high MCA-PSV predicts perinatal mortality better than does a low MCA-PI. We propose that MCA-PSV might be valuable in the clinical assessment of IUGR fetuses that have abnormal UA Doppler.

Intravaginal gemeprost and second-trimester pregnancy termination in the scarred uterus.

OBJECTIVE: To investigate the effectiveness and complication rate of intravaginal gemeprost, a prostaglandin E(1) analogue, for second-trimester pregnancy termination in women with a scarred uterus. METHODS: Of 439 women undergoing induced abortion between the 13th and the 23rd week of pregnancy, 67 had a scarred uterus because of 1 or more cesarean sections or myomectomy. All women received a 1 mg dose of gemeprost intravaginally every 3 h, up to 5 times over 24 h. Those who did not respond received further cycles of gemeprost treatment. RESULTS: The rate of successful abortions among women with uterine scars was not different from that observed in the nulliparous controls, but previously vaginal delivery was associated with a shorter induction to abortion interval. The rate of severe complications did not differ between the groups, and was about 1%. CONCLUSION: The rate of complications following intravaginal administration of a PGE(1) analogue for second-trimester pregnancy termination was similar in women with a scarred or unscarred uterus.

Oocytes cryopreservation: state of art.

In the present review article we sought to analyze, on the basis of a systematic review, the indications, rationale of oocytes cryopreservation, as well as the techniques that improved the aforementioned procedure in order to higher the pregnancy rate in women undergoing that procedure. Moreover, we pointed out the importance of oocytes cryopreservation in the research field as oocyte banking may be of utmost importance to increase the availability of oocytes for research applications such as genetic engineering or embryo cloning. Oocyte freezing has 25 year of history alternating successes and setbacks. Human oocytes have a delicate architecture but are freezable. Clinical efficiency remains low, but healthy children have been born, indicating that chromosomally normal embryos can originate from frozen oocytes. Freezing protocols are not yet optimal and it is now desirable to combine empirical and theoretical knowledge.

Prognostic value of umbilical-middle cerebral artery pulsatility index ratio in fetuses with growth restriction.

OBJECTIVE: To study the utility of Doppler velocimetry and computerized cardiotocography in the management of intrauterine growth restriction and prediction of neonatal outcome. PATIENTS AND METHODS: Seventy-two pregnant women with fetuses showing growth restriction and delivered within 48 h of their last Doppler velocimetry evaluation. The last computerized cardiotocographic trace from these fetuses was used for statistical analysis, and the last trace from the healthy fetuses of 93 consecutive women undergoing cesarean section was used as control. Umbilical artery pulsatility index (UA PI), middle cerebral artery pulsatility index (MCA PI), UA PI/MCA PI ratio, and uterine artery resistance index (Ut RI) were assessed. RESULTS: Among women with growth-restricted fetuses, all parameters were significantly higher in those who had hypertension; and in those who had diabetes, only the UA PI/MCA ratio was significantly higher. Umbilical artery PI values and the UA PI/MCA ratio were higher in those who had a nonreassuring result to computerized nonstress test immediately before delivery. A multiple logistic analysis showed that the UA PI/MCA ratio was the only Doppler velocimetry parameter predicting cardiotocographic nonreactivity; furthermore, the predictivity of extended newborn hospitalization (longer than 15 days) was verified, with a sensitivity of 56% and a specificity of 92% when the ratio was higher than 1.26. CONCLUSION: The MCA PI of fetuses with growth restriction should be assessed. The UA PI/MCA ratio is predictive of a nonreactive computerized cardiotocography trace and of prolonged neonatal hospitalization.

Hysteroscopic permanent tubal sterilization using a nitinol-dacron intratubal device without anaesthesia in the outpatient setting: procedure feasibility and effectiveness.

BACKGROUND: Hysteroscopic permanent tubal sterilization has recently been introduced, resulting in a non-invasive, safe and effective technique. The aim of this study was to assess the feasibility of outpatient hysteroscopic tubal sterilization using a nitinol-dacron intratubal device without anaesthesia and to assess patient procedure compliance. MATERIALS AND METHODS: We untertook a prospective study of 36 consecutive cases of outpatient hysteroscopic tubal sterilization using a nitinol-dacron intratubal device without anaesthesia. Tubal sterilization was performed by placing the device with the aid of a 5.2-mm continuous-flow operative hysteroscope. At the end of the procedure women were asked to rate the pain experienced on a visual analogue scale (VAS) (0, no discomfort to 100, severe discomfort). Successful device placement was assessed after 3 months by hysterosalpingography and diagnostic hysteroscopy. RESULTS: Successful bilateral placement was obtained in 32 patients (88.9%); in one (2.8%) the placement was monolateral; and in three (8.3%) the procedure failed. Mean operating time was 8.6 +/- 5.3 min. A mean VAS of 36.1 +/- 23.9 was recorded. CONCLUSIONS: The nitinol-dacron intratubal device is safe, appears to be effective long-term, is non-invasive and can be used in the outpatient setting without anaesthesia. Low-level discomfort was experienced by the patients. Limitations of its use include that it is not effective immediately, it is irreversible, it requires special equipment and training, and it is difficult to use in cases of uterine anomalies. We conclude that this method may be offered to all woman asking for permanent tubal sterilization, particularly those who refuse or have contraindications for anaesthesia.

Is delayed childbearing changing gene frequencies in Western populations?

Experimental data and clinical observations suggest that delaying childbearing influences the biology of the mother-fetus relationship, with a negative effect on fetal development and predisposition to severe diseases such as type 1 diabetes. We reason that advanced maternal age may influence intrauterine selection, favoring genotypes that are more adapted to the intrauterine environment of less young women. In the present study we have investigated the relationship of maternal age to HP genotype and PGM1-Rh area (chromosome 1) that have been previously found to be associated with fertility and developmental parameters. HP phenotype was determined in 679 consecutive puerperae from the population of central Italy. PGM1 phenotype and Rh C phenotype were determined in 222 puerperae and 200 newborns. The HP 1,1 phenotype decreases and the HP 2,2 phenotype increases with maternal age. The proportion of phenotypes carrying both the Rh C and PGM1*1 alleles is much higher in puerperae older than 36 years than in puerperae of age 22 years. The frequency of the PGM1*1-Rh C haplotype increases and the frequency of the PGM1*2-Rh C haplotype decreases with maternal age. The changes in these genetic systems with advancing maternal age are similar in mothers and newborns. The delay of childbearing age, associated in Western countries with the fertility transition in addition to detrimental effects on intrauterine development and increased susceptibility to severe disorders, could bring about changes in the genetic composition of a population.

Asymptomatic struma ovarii: a case report.

Struma ovarii is a rare ovarian neoplasm. This tumor is generally benign, although malignant transformation has been reported. The preoperative diagnosis is generally difficult. Thyroid hormones may be produced and in a few cases asymptomatic women may develop definitive clinical hypothyroidism after resection of struma ovarii. We report a case of a 39-year-old woman who underwent laparoscopic resection of an asymptomatic right ovarian mass. The pathologic diagnosis was struma ovarii. The postoperative period was uneventful and her thyroid function remained normal.

Antenatal corticosteroids policies in 14 European countries: factors associated with multiple courses. The EURAIL survey.

AIM: To describe antenatal corticosteroids (ANCs) policies in European obstetric units and to determine factors that influence the use of multiple courses. METHODS: 641 obstetricians from obstetric departments covering a geographical area in 14 European countries responded to a questionnaire on ANCs policies. Logistic regression was used to identify factors that were related to the use of multiple ANCs courses. RESULTS: The survey response rate was 76% (inter-country range 33-94%): 11% (0-50%) of the respondents started ANCs from 23 to 24 wk gestation, 82% from 24 to 28 wk (50-100%) and 7% from 28 to 36 wk (0-32%). Eighty-five percent of the units (63-100%) used multiple ANCs courses. After adjustment for country, number of infants delivered at 24-32 wk annually in the unit, NICU and maternal hypertension, maternal hypertension tended to be an explicative factor (OR 1.97; 95% CI: 0.75-5.17). CONCLUSIONS: The high proportion of departments that initiated ANCs between 24 and 28 wk of gestation is consistent with the high incidence of neonatal morbidity and mortality in that age range. Multiple courses are overwhelmingly prescribed in Europe, although their risk/benefit ratio compared with a single dose is not yet known. The likelihood of using repeated courses of ANCs may be related to the presence of maternal hypertension, and this highlights the importance of closely monitoring women at risk of premature delivery.