Ophthalmic artery Doppler at 11-13 weeks' gestation in prediction of pre-eclampsia.

OBJECTIVES: To examine the potential value of maternal ophthalmic artery Doppler at 11-13 weeks' gestation, alone and in combination with the established first-trimester biomarkers of pre-eclampsia (PE), including uterine artery pulsatility index (UtA-PI), mean arterial pressure (MAP), serum placental growth factor (PlGF) and serum pregnancy-associated plasma protein-A (PAPP-A), in the prediction of subsequent development of PE. METHODS: This was a prospective observational study in women attending for a routine hospital visit at 11 + 0 to 13 + 6 weeks' gestation. This visit included recording of maternal demographic characteristics and medical history, ultrasound examination for fetal anatomy and growth, assessment of flow velocity waveforms from the maternal ophthalmic arteries and calculation of the second-to-first peak systolic velocity (PSV) ratio, and measurement of MAP and serum PAPP-A. In addition, a case-control study was carried out for measurement of PlGF in stored samples from cases that developed PE and unaffected controls. The values of PSV ratio, UtA-PI, MAP, PAPP-A and PlGF were converted to multiples of the median or deltas to remove the effects of maternal characteristics and medical history. The competing-risks model was used to estimate the individual patient-specific risk of delivery with PE at < 37 and < 41 + 3 weeks' gestation for various combinations of markers. Performance was assessed using detection rates, at a fixed false-positive rate (FPR), and areas under the receiver-operating-characteristics curves. Modeled performance was also assessed. RESULTS: The study population of 4066 pregnancies contained 114 (2.8%) that developed PE, including 25 (0.6%) that delivered with PE at < 37 weeks' gestation. The PSV ratio was significantly increased in PE pregnancies, and the effect of PE depended on gestational age at delivery, with the deviation from normal being greater for early than for late PE. Modeling demonstrated that the addition of PSV ratio improved the detection rate, at a 10% FPR, of preterm PE provided by maternal risk factors alone (from 46.3% to 58.4%), maternal factors, MAP and UtA-PI (65.9% to 70.6%), and maternal factors, MAP, UtA-PI and PlGF (74.6% to 76.7%). The PSV ratio did not improve the prediction of term PE provided by any combination of biomarkers. CONCLUSION: Ophthalmic artery PSV ratio at 11-13 weeks' gestation is a potentially useful biomarker for prediction of subsequent development of preterm PE, but larger studies are needed to validate this finding. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Comparison of ophthalmic artery Doppler with PlGF and sFlt-1/PlGF ratio at 35-37 weeks' gestation in prediction of imminent pre-eclampsia.

OBJECTIVE: To compare the predictive performance for delivery with pre-eclampsia (PE) at < 3 weeks and at any stage after assessment at 35 + 0 to 36 + 6 weeks' gestation of serum placental growth factor (PlGF) and soluble fms-like tyrosine kinase-1 (sFlt-1)/PlGF ratio with that of a competing-risks model utilizing maternal risk factors, mean arterial pressure (MAP) and ophthalmic artery peak systolic velocity (PSV) ratio. METHODS: This was a prospective observational study of women attending for a routine hospital visit at 35 + 0 to 36 + 6 weeks' gestation. This visit included recording of maternal demographic characteristics and medical history, ultrasound examination of fetal anatomy and growth, assessment of flow velocity waveforms from the maternal ophthalmic arteries and measurement of MAP, serum PlGF and serum sFlt-1. The performance of screening for delivery with PE at < 3 weeks and at any time after the examination was assessed using areas under the receiver-operating-characteristics curves and detection rates (DRs), at a 10% false-positive rate (FPR). McNemar's test was used to compare DRs, at a 10% FPR, between screening by PlGF concentration, the sFlt-1/PlGF concentration ratio and the competing-risks model utilizing maternal risk factors, MAP and ophthalmic artery PSV ratio. Model-based estimates of screening performance for different methods of screening were also produced. RESULTS: The study population of 2338 pregnancies contained 75 (3.2%) cases that developed PE, including 30 (1.3%) that delivered with PE at < 3 weeks from assessment, and 2263 cases unaffected by PE. The DR of PE at < 3 weeks from assessment, at a 10% FPR, of sFlt-1/PlGF ratio (70.0% (95% CI, 50.6-85.3%)) was superior to that of PlGF (50.0% (95% CI, 31.3-68.7%)) or PSV ratio (56.7% (95% CI, 37.4-74.5%)) but inferior to that of the combination of maternal risk factors, MAP multiples of the median (MoM) and PSV ratio delta (96.7% (95% CI, 82.8-99.9%)). Similarly, the DR of PE at any stage after assessment of sFlt-1/PlGF ratio (62.7% (95% CI, 50.7-73.6%)) was superior to that of PlGF (52.0% (95% CI, 40.2-63.7%)) or PSV ratio (41.3% (95% CI, 30.1-53.3%)) but inferior to that of the combination of maternal risk factors, MAP MoM and PSV ratio delta (78.7% (95% CI, 67.7-87.3%)). The empirical results for DR at a 10% FPR were consistent with the modeled results, both for delivery with PE at < 3 weeks and at any time after assessment. CONCLUSION: Ophthalmic artery Doppler in combination with maternal risk factors and blood pressure could potentially replace measurement of PlGF and sFlt-1/PlGF ratio in the prediction of imminent PE. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Ophthalmic artery Doppler at 35-37 weeks' gestation in pregnancies with small or growth-restricted fetuses.

OBJECTIVES: First, to compare the ophthalmic artery peak systolic velocity (PSV) ratio at 35-37 weeks' gestation among women who delivered small-for-gestational-age (SGA) or growth-restricted (FGR) neonates in the absence of hypertensive disorders, women who developed pre-eclampsia (PE) or gestational hypertension (GH) and those without SGA, FGR, PE or GH. Second, to examine the association of PSV ratio with placental growth factor (PlGF) and mean arterial pressure (MAP). Third, to assess the associations of PSV ratio, PlGF and MAP with birth-weight Z-score and percentile. METHODS: This was a prospective observational study in women attending for a routine hospital visit at 35 + 0 to 36 + 6 weeks' gestation. This visit included recording of maternal demographic characteristics and medical history, ultrasound examination of fetal anatomy and growth, and measurement of maternal ophthalmic artery PSV ratio, first (PSV1) and second (PSV2) peaks of systolic velocity, MAP and serum PlGF. The values of PSV ratio, MAP and PlGF were converted to multiples of the median (MoM) or delta values, and the median MoM or delta of these variables in the SGA, FGR, PE and GH groups were compared with those in the unaffected group. Regression analysis was used to examine the relationship of PSV ratio delta, PlGF MoM and MAP MoM with birth-weight Z-score after exclusion of PE and GH cases. Regression analysis was also used to examine the association of PSV ratio delta with log10 PlGF MoM and log10 MAP MoM. RESULTS: The study population included 2287 pregnancies, of which 1954 (85.4%) were not affected by FGR, SGA, PE or GH, 49 (2.1%) were complicated by FGR in the absence of PE or GH, 160 (7.0%) had SGA in the absence of FGR, PE or GH, 60 (2.6%) had PE and 64 (2.8%) had GH. Compared with unaffected pregnancies, in both the FGR and SGA groups, the means of PSV ratio delta (0.042 (95% CI, 0.007-0.076) and 0.032 (95% CI, 0.016-0.049), respectively) and MAP MoM (1.028 (95% CI, 1.006-1.050) and 1.048 (95% CI, 1.035-1.060), respectively) were increased, while the mean of PlGF MoM was decreased (0.495 (95% CI, 0.393-0.622) and 0.648 (95% CI, 0.562-0.747), respectively). However, the magnitude of these changes was smaller than in the PE and GH groups. Ophthalmic artery waveform analysis revealed that the predominant feature of pregnancies complicated by SGA in the absence of hypertensive disorders was a reduction in PSV1, whereas, in those with hypertensive disorders, there was an increase in PSV2. In non-hypertensive pregnancies, there were linear inverse associations of PSV ratio delta and MAP MoM with birth-weight Z-score, with increased values in small neonates and decreased values in large neonates. There was a quadratic relationship between PlGF MoM and birth-weight Z-score, with low PlGF levels in small neonates and high PlGF levels in large neonates. There was a significant correlation of ophthalmic artery PSV ratio delta with both log10 MAP MoM (0.124 (95% CI, 0.069-0.178)) and log10 PlGF MoM (-0.238 (95% CI, -0.289 to -0.185)). CONCLUSION: Assuming that the ophthalmic artery PSV ratio is a reflection of the interplay between cardiac output and peripheral vascular resistance, the linear association between PSV ratio and birth-weight Z-score in non-hypertensive pregnancies suggests the presence of a continuous physiological relationship between fetal size and cardiovascular response rather than a dichotomous relationship between high peripheral resistance and low cardiac output in small compared with non-small fetuses. © 2022 International Society of Ultrasound in Obstetrics and Gynecology.

Ophthalmic artery Doppler in combination with other biomarkers in prediction of pre-eclampsia at 35-37 weeks' gestation.

OBJECTIVE: To examine the potential value of maternal ophthalmic artery Doppler at 35-37 weeks' gestation in combination with the established biomarkers of pre-eclampsia (PE), including mean arterial pressure (MAP), uterine artery pulsatility index (UtA-PI), serum placental growth factor (PlGF) and serum soluble fms-like tyrosine kinase-1 (sFlt-1), in the prediction of subsequent development of PE. METHODS: This was a prospective observational study in women attending for a routine hospital visit at 35 + 0 to 36 + 6 weeks' gestation. This visit included recording of maternal demographic characteristics and medical history, ultrasound examination for fetal anatomy and growth, assessment of flow velocity waveforms from the maternal ophthalmic arteries, and measurement of MAP, UtA-PI, serum PlGF and serum sFlt-1. The competing-risks model was used to estimate the individual patient-specific risks of delivery with PE at any time and at < 3 weeks after assessment by a combination of maternal demographic characteristics and medical history with biomarkers. The area under the receiver-operating-characteristics curve and detection rate (DR) of delivery with PE, at a 10% false-positive rate (FPR), in screening by combinations of maternal factors with ophthalmic artery second to first peak of systolic velocity ratio (PSV ratio), MAP, UtA-PI, serum PlGF and serum sFlt-1 were determined. The modeled performance of screening for PE was also estimated. RESULTS: The study population of 2287 pregnancies contained 60 (2.6%) that developed PE, including 19 (0.8%) that delivered with PE at < 3 weeks after assessment. The PSV ratio improved the prediction of PE with delivery at any stage after assessment provided by maternal factors alone (from 25.4% to 50.6%), maternal factors and MAP (54.3% to 62.7%), maternal factors, MAP and PlGF (68.3% to 70.8%) and maternal factors, MAP, PlGF and sFlt-1 (75.7% to 76.7%), at a FPR of 10%. The PSV ratio also improved the prediction of PE with delivery at < 3 weeks after assessment provided by maternal factors alone (from 31.0% to 69.4%), maternal factors and MAP (74.1% to 83.4%), maternal factors, MAP and UtA-PI (77.1% to 85.0%) and maternal factors, MAP and PlGF (84.8% to 88.6%). The empirical results for DR at a 10% FPR were consistent with the modeled results. Screening by a combination of maternal factors with MAP and PSV ratio also detected 59.4% (95% CI, 58.6-82.5%) of cases of gestational hypertension with delivery at any stage after assessment, and 86.7% (95% CI, 82.4-100%) of those with delivery at < 3 weeks after assessment. CONCLUSION: Ophthalmic artery Doppler could potentially improve the performance of screening for PE at 35-37 weeks, especially imminent PE with delivery within 3 weeks after assessment, but further studies are needed to validate this finding. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.

Ophthalmic artery Doppler in prediction of pre-eclampsia at 35-37 weeks' gestation.

OBJECTIVES: First, to examine the potential value of maternal ophthalmic artery Doppler at 35-37 weeks' gestation in the prediction of subsequent development of pre-eclampsia (PE), and, second, to examine the variability between repeat measurements in the same eye and variability in measurements between the two eyes. METHODS: This was a prospective observational study in women attending for a routine hospital visit at 35 + 0 to 36 + 6 weeks' gestation. The visit included recording of maternal demographic characteristics and medical history and assessment of flow velocity waveforms from the maternal ophthalmic artery. Waveforms were obtained in sequence from the right eye, left eye and again from the right and then left eye. We recorded the average of the four measurements, two from each eye, for the following four indices: first peak of systolic velocity; second peak of systolic velocity; pulsatility index; and the ratio of the second to first peak of systolic velocity (PSV ratio). The measurements of the four indices were standardized to remove the effects of maternal characteristics and elements from the medical history. The competing-risks model was used to determine the detection rate (DR) of delivery with PE at any time and at < 3 weeks after assessment, at a 10% false-positive rate (FPR), in screening by maternal factors alone and a combination of maternal factors and the adjusted value of each of the four ophthalmic artery indices. RESULTS: The study population of 2287 pregnancies contained 60 (2.6%) that developed PE, including 19 (0.8%) that delivered with PE at < 3 weeks after assessment. The DR, at 10% FPR, of delivery with PE at any time after assessment by maternal factors was 25.0% (95% CI, 14.7-37.9%), and this increased by 25 percentage points to 50.0% (95% CI, 36.8-63.2%) with the addition of the adjusted PSV ratio (P = 0.005); the respective values for delivery with PE at < 3 weeks after assessment were 31.6% (95% CI, 12.6-56.6%) and 57.9% (95% CI, 33.5-79.8%). The other ophthalmic artery indices did not improve the prediction provided by maternal factors alone. There was good correlation between the first and second measurements of PSV ratio from the same eye (right eye r = 0.823, left eye r = 0.840), but poorer correlation in the first and second measurements between the two eyes (first measurement r = 0.690, second measurement r = 0.682). In screening by maternal factors and PSV ratio for PE with delivery at any stage after assessment, the estimated DR, at 10% FPR, was 50.0% when the average of four measurements was used (two from each eye), 49.1% when the average of one measurement from each eye was used, 47.3% when the average of two measurements from the same eye was used, and 45.8% when only one measurement was used. CONCLUSIONS: Ophthalmic artery PSV ratio at 35-37 weeks' gestation can predict subsequent delivery with PE, especially if this occurs within 3 weeks after assessment. In the assessment of ophthalmic artery Doppler, it is necessary to use the average of one measurement from each eye to minimize variability of measurements. © 2020 International Society of Ultrasound in Obstetrics and Gynecology.

Progressive lesions of central nervous system in microcephalic fetuses with suspected congenital Zika virus syndrome.

OBJECTIVE: To describe the pattern and progression of central nervous system (CNS) lesions in microcephalic fetuses with suspected Zika virus (ZIKV) infection. METHODS: In this prospective study in Salvador, Brazil, we analyzed fetuses diagnosed with microcephaly and suspected ZIKV infection after a routine primary care ultrasound scan between July 2015 and February 2016 raised suspicion of fetal microcephaly. The pregnancies were followed with serial ultrasound scans until delivery at one of the three main referral centers for fetal abnormalities in Salvador, Brazil. Microcephaly was diagnosed when the head circumference was two or more SDs below the mean for gestational age and its relationship with ZIKV infection was defined according to the World Health Organization's criteria. All women were interviewed, to assess potential factors associated with fetal microcephaly. Serology test results for toxoplasmosis, cytomegalovirus, rubella, syphilis and human immunodeficiency virus (HIV) were recorded, as were previous routine ultrasound results. Signs/symptoms of infection during the pregnancy were noted. RESULTS: Of 60 cases of suspected ZIKV-related fetal microcephaly seen during the study period, eight were excluded due to serological evidence of other congenital infections or major ultrasound chromosomal markers. In the remaining 52 fetuses, microcephaly was diagnosed between 19 and 40 (median, 27.7; interquartile range, 23.4-32.0) weeks of gestation. The main ultrasound findings were: ventriculomegaly (65.4% of cases), cerebral calcifications (44.2%) and posterior fossa abnormalities (32.7%). 9.6% presented with arthrogryposis as an associated finding. Microcephaly was an isolated finding in four cases (7.7%). While ventriculomegaly was progressive in 41.2% of cases with this finding, the velocity of head circumference increase decreased progressively in almost all cases. Exanthematic disease was present in the majority (86.5%) of the women, 67.3% presenting in the first trimester of pregnancy. Additional lesions were detected after birth in 71.4% of the 35 cases with neonatal follow-up. CONCLUSIONS: The majority of cases of congenital ZIKV syndrome have other ultrasonographic findings in addition to microcephaly. ZIKV-related CNS anomalies present mainly as progressive CNS lesions and slowing rate of growth of the fetal head, and this seems to be evident only in the late second trimester, even when maternal infection occurs in the first trimester. Other ultrasound findings, such as ventriculomegaly, brain calcifications and posterior fossa destruction lesions, are also common in this congenital syndrome. Posterior fossa destruction lesions and arthrogryposis are an uncommon finding in other congenital infections, perhaps suggesting a novel severe congenital syndrome associated with fetal ZIKV. Copyright © 2016 ISUOG. Published by John Wiley & Sons Ltd.

Association between the thrombophilic polymorphisms MTHFR C677T, Factor V Leiden, and prothrombin G20210A and recurrent miscarriage in Brazilian women.

Some cases of recurrent first trimester miscarriage have a thrombotic etiology. The aim of this study was to investigate the prevalence of the most common thrombophilic mutations - factor V (FV) Leiden G1691A (FVL), prothrombin (FII) G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T - in women with recurrent miscarriages. In this case-control study, we included 137 women with two or more consecutive first-trimester miscarriages (£12 weeks of gestation) and 100 healthy women with no history of pregnancy loss, and with at least one living child. DNA was extracted from the patient samples, and the relevant genes (FVL, FII, and MTHFR) were amplified by PCR, followed by restriction fragment length polymorphism, to assess the polymorphisms in these genes. The allelic frequencies of polymorphisms were not significantly different between the case and control groups. Polymorphisms in the MTHFR, FVL, and FII genes were not associated with recurrent miscarriage during the first trimester of pregnancy in Brazilian women (P = 0.479; P = 0.491 and P = 0.107, respectively). However, the etiologic identification of genetic factors is important for genetic counseling.

Cesarean 10-group classification: a tool for clinical management of the delivery ward.

AIM: Aim of the present study was to evaluate 10-group Robson classification for delivery ward clinical management. METHODS: To evaluate cesarean section (C-section) rate following the implementation firstly of recommendations, and then of 10-group reporting and medical audit, a retrospective cohort study was performed including all women who gave birth in the years 2001, 2006 and 2010. Data were analyzed by means of 10-group classification. RESULTS: C-section rate was 27.5% in 2001, 31.1% in 2006, and 30.5% in 2010. Ten-group analysis showed that from 2001 to 2006 group 1-2 size increased from 27.6% to 42.5% (P<0.01), and contribution to the overall cesarean rate from 22.3% to 29.9% (P<0.01), whereas the group 1 C-section sub-rate was reduced from 19.6% to 13.5% (P<0.05). Previous cesarean increased from 9.2% to 11.6% (P<0.05). Delivery ward 10-group monitoring showed that from January to May 2010 the C-section rate was consistently above 30%. The audit was started and the causes were analyzed. Subsequently, C-section rate dropped to the actual 30.5%. CONCLUSION: Ten-group analysis showed that the 2006 cesarean rate increase was related to a significant shift in obstetric population toward groups 5 to 9 at higher risk of C-section, whereas after recommendation implementation a significant reduction of C-section subrates was observed in groups 1, 2a, 3, 4a, and 10 which represented more than 80% of the hospital population. In 2010, 10-group monitoring of the cesarean subrates stabilized the C-section rate. Ten-group analysis should be implemented in clinical practice to control delivery ward clinical management. It only requires the involvement of a clinical manager and of a midwife for data collection.

Impact of NADiA ProsVue PSA slope on secondary treatment decisions after radical prostatectomy.

BACKGROUND: Selecting appropriate candidates for postprostatectomy radiotherapy is challenging, because adverse pathological features cannot accurately predict clinical recurrence. Biomarkers that identify residual disease activity may assist clinicians when counseling patients on the risks, benefits and costs of secondary treatment. NADiA ProsVue PSA slope results ≤2.0 pg ml(-1) month(-1) are predictive of a reduced risk of clinical recurrence; however, its clinical utility has not yet been studied. METHODS: We prospectively enrolled men treated by radical prostatectomy in a multicenter, institutional review board-approved clinical trial. At postsurgical follow-up, investigators (N=17) stratified men into low-, intermediate- or high-risk groups for prostate cancer recurrence based on clinicopathological findings and other factors. Investigators documented their initial treatment plan for each subject and serially collected three serum samples for ProsVue testing. After the ProsVue result was reported, investigators recorded whether or not the initial treatment plan was changed. The proportion of cases referred for secondary treatment before and after ProsVue was reported, and the significance of the difference determined. RESULTS: Complete assessments were reported for 225 men, 128 (56.9%) of whom were stratified into intermediate- and high-risk groups. Investigators reported that they would have referred 41/128 (32.0%) at-risk men for secondary treatment. However, after results were known, they referred only 15/128 (11.7%) men. The difference in proportions (-20.3%, 95% confidence interval (CI) -29.9 to -10.3%) is significant (P<0.0001). Odds of a referral was significantly reduced after results were reported (odds ratio 0.28, 95% CI 0.15-0.54, P<0.0001). CONCLUSIONS: Knowledge of a ProsVue result had significant impact on the final treatment plan. A ProsVue result ⩽2.0 pg ml(-1) month(-1) significantly reduced the proportion of men at risk of recurrence who otherwise would have been referred for secondary treatment.

[Delivery induction with slow-release dinoprostone in clinical practice: results of a clinical protocol]. / L'induzione del parto con prostaglandine a lento rilascio nella pratica clinica: risultati di un protocollo clinico.

AIM: The aim of this paper was to evaluate the feasibility of a protocol for the induction of delivery with slow-release dinoprostone in women with unfavourable cervix. METHODS: Indications for the induction were: pregnancy beyond 40 weeks, amniotic fluid index (AFI) <5, premature rupture of membranes, intrauterine growth retardation, or adverse maternal conditions. Eligibility criteria were: single pregnancy, cephalic presentation, Bishop Score <4, no previous uterine scar. Slow-release vaginal insert containing dinoprostone 10 mg was used to induce delivery according to a dedicated protocol agreed between clinicians and midwifes. Dinoprostone induction failure was defined as no cervical dilation >3 cm at the removal of the insert. RESULTS: One-hundred-nineteen patients were enrolled. The onset of labour was obtained in 102 (85.7%) patients, 98 (82.3%) with the insert only, and in 4 (3.3%) after the sequential administration of prostaglandins and oxitocin. The mean interval between insert application and delivery was 16.85±11.48 hours. Vaginal delivery was reported in 87 (73.1%) women, whereas Cesarean was necessary in 32 (26.9%) patients [29 nulliparous]. Cesarean section was also required in 15/98 (15.3%) women who responded to prostaglandins and in 17/21 (80.9) non-responders. Protocol violations occurred in 11 (9.2%) patients. Uterine hyperstimulation occurred in 4 (3.3%) patients. CONCLUSION: Induction of delivery with slow-release dinoprostone seems a feasible option, characterized by high efficacy, good adherence to protocol, low incidence of adverse events and easy management. In our opinion the high compliance of the gynecologists and midwifes is based on the insert handiness.

Controlled growth of CNT in mesoporous AAO through optimized conditions for membrane preparation and CVD operation.

Anodic aluminium oxide (RAAO) membranes with a mesoporous structure were prepared under strictly controlling experimental process conditions, and physically and chemically characterized by a wide range of experimental techniques. Commercial anodic aluminium oxide (CAAO) membranes were also investigated for comparison. We demonstrated that RAAO membranes have lower content of both water and phosphorus and showed better porosity shape than CAAO. The RAAO membranes were used for template growth of carbon nanotubes (CNT) inside its pores by ethylene chemical vapour deposition (CVD) in the absence of a catalyst. A composite material, containing one nanotube for each channel, having the same length as the membrane thickness and an external diameter close to the diameter of the membrane holes, was obtained. Yield, selectivity and quality of CNTs in terms of diameter, length and arrangement (i.e. number of tubes for each channel) were optimized by investigating the effect of changing the experimental conditions for the CVD process. We showed that upon thermal treatment RAAO membranes were made up of crystallized allotropic alumina phases, which govern the subsequent CNT growth, because of their catalytic activity, likely due to their Lewis acidity. The strict control of experimental conditions for membrane preparation and CNT growth allowed us to enhance the carbon structural order, which is a critical requisite for CNT application as a substitute for copper in novel nano-interconnects.

Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH.

X;Y translocation is a relatively rare event in humans. Analyzed cytogenetically, the majority of these aberrations have breakpoints at Xp22 and Yq11. Females with t(X;Y)(p22;q11) are phenotypically normal except for short stature, while the males may have abnormalities. Aberrations that lead to nullisomy of the deleted region and complete loss of the respective genes have been recognized as a cause of variable contiguous gene syndromes in males. The phenotype depends on the extent and position of the deletion showing the variable association of apparently unrelated clinical manifestations such as ichthyosis, chondrodysplasia punctata, hypogonadotropic hypogonadism with anosmia, ocular albinism, short stature, and mental retardation. In addition, some patients have been reported with symptoms of attention deficit hyperactivity disorder. The extent of terminal Xp deletions is limited by the presence of male lethal genes in Xp22.2 at about 10-11 Mb from the telomere. The deletions in the majority of viable reported male patients extend to the STS ( approximately 7.0 Mb) or to the KAL1 ( approximately 8.5 Mb) loci. We present a clinical, cytogenetic, FISH, and array CGH study of a family with an Xp;Yq translocation. The chromosomal status is also discussed in the light of their phenotypic traits. The final karyotypes of the patients were designated as: Patient 1: 46,Y,der(X),t(X;Y)(p22;q12).ish der(X)(Xpter-,DXZ1+,Xqter+)mat.arr cgh Xp22.31p22.33(RP11-60P14 --> RP13-391G2)x0;arr cgh Yq11.221qter (RP11-235I1 --> RP11-270H4)x2.Patient 2: 46,X,der(X),t(X;Y)(p22;q12).ish der(X)(Xpter-,DXZ1+,Xqter+)mat.arr cgh Xp22.31p22.33(RP11-60P14 --> RP13-391G2)x1;arr cgh Yq11.221qter (RP11-235I1 --> RP11-270H4)x1.

Endometrial carcinoma: intraoperative evaluation of myometrial invasion. A prospective study.

AIM: The authors investigated the diagnostic value of intraoperative assessment of myometrial invasion in endometrial cancer patients. Following hysterectomy, the uterus was sectioned and macroscopically examined in order to assess the depth of myoinvasion, which was classified as <50% and >50%. In patients with macroscopic depth of invasion>30% and <50%, a frozen section of this area was carried out. The results of intraoperative evaluation were compared with the results of postoperative pathological examination. The agreement between methods was developed as generalized Kappa type statistic. Sensitivity, specificity, positive and negative predictive values for intraoperative only macro and macro/micro evaluation were calculated. METHODS: Seventy eight consecutive patients (median age 64 years, range 43-92; median Body Mass Index [BMI] 30.5, range 21.9-46.7) who underwent total abdominal hysterectomy and bilateral salpingo-oophorectomy (THBSO) were included in the study. Following intraoperative macroscopic evaluation, frozen section was carried out in 15 (19%) patients. The median time to obtain the results was 16 min for macroscopic evaluation, and 29 min for the macro/micro assessment. RESULTS: Macroscopic only assessment correctly identified depth of myoinvasion in 91% of patients, while, when the frozen section was carried out, myoinvasion was correctly identified in 95% of patients. For macroscopic only and macro-micro assessment sensitivity and specificity were 76% and 98%, 86% and 98%, respectively. CONCLUSION: These data suggest that the frozen section may improve, the diagnostic value of macroscopic only intraoperative assessment of myometrial invasion in selected patients.

Low protein Z levels and risk of occurrence of deep vein thrombosis.

BACKGROUND: Protein Z (PZ) serves as a cofactor for activated factor X inhibition by the PZ-dependent protease inhibitor. In vivo and in vitro studies aimed at investigating the role of PZ levels in venous thombosis have produced conflicting results. OBJECTIVES: We investigated whether reduced PZ levels and PZ gene common variants are associated deep vein thrombosis (DVT). PATIENTS AND METHODS: In 197 patients with DVT and in 197 age-matched and sex-matched controls, PZ plasma levels and gene polymorphisms were evaluated by means of an enzyme-linked immunosorbent assay and direct cycle sequence analysis. RESULTS: Similar PZ levels were found in controls (1.44; SD 0.63 microg mL-1) and in patients (1.44; SD 0.96 microg mL-1). The incidence of PZ levels below the 5.0 (0.52 microg mL-1) or the 2.5 percentile of controls (0.47 microg mL-1) was higher in patients (10.2% and 8.7%, respectively) than in controls {4.1% [odds ratio (OR) 2.7, 95% confidence interval (CI) 1.2-7.3], and 2.0% (OR 4.6, 95% CI 1.5-13.9), respectively}. This relationship was independent of the effect of age, sex, and factor V Leiden and FII A(20210) alleles [OR 2.8 (95% CI 1.1-7.3), and OR 4.9 (95% CI 1.4-17.3)]. PZ levels were associated with the intron C G-42A and the intron F G79A polymorphisms in cases (r2=0.129) and in controls (r2=0.140). However, frequencies of the PZ gene polymorphisms were similar in the two groups and were not associated with very low PZ levels. CONCLUSIONS: The present data suggest an association between very low PZ plasma levels and the occurrence of DVT, with PZ gene polymorphisms contributing little to this relationship.

Identification of fetal gender in maternal blood is a helpful tool in the prenatal diagnosis of haemophilia.

Fetal DNA identification in maternal circulation has provided a new approach for non-invasive prenatal diagnosis. However, fetal DNA can persist in maternal blood long after the delivery, severely hampering this possibility. We addressed the issue of fetal DNA persistence in maternal blood. Thus, we investigated cell-free fetal DNA as a reliable approach in prenatal diagnosis of haemophilia. Forty non-pregnant women, who had had at least a male fetus, 29 control pregnant women, and 14 pregnant women, carriers of hemophilia A or B. The assessment of Y-chromosomal sequences was performed by analysing SRY and amelogenin genes using PCR-based techniques. A protocol consisting of double centrifugation at full speed followed by plasma filtration hampered the detection of Y chromosome-specific sequence in non-pregnant women. In 29 control pregnant women, blinded determination of fetal sex confirmed the specificity and sensitivity of the method applied. In 14 pregnant carriers of hemophilia, the investigation revealed a male fetus in nine pregnancies. Excluding the three cases in which a spontaneous miscarriage occurred, the sensitivity and specificity of fetal sex prediction by SRY and amelogenin gene analyses were both 100% as compared with the invasive approach and the fetal sex outcome at birth (six males and five females). Because of its high accuracy in prediction, fetal gender determination with cell-free fetal DNA in maternal plasma may be a useful tool in prenatal diagnosis of haemophilia allowing for the avoidance of invasive procedures for female fetuses.

Consenso sobre a transdisciplinaridade na medicina periodontal 2005 / Consensus on periodontal medicine transdisciplinarity 2005

Objetivo : estabelecer diretrizes para as investigações sobre a transdisciplinaridade na Medicina Periodontal. Métodos: representantes das diferentes especialidades que estudam e pesquisam diversoa aspectos da Medicina Periodontal participaram do II Seminário de Periodontia em Saúde Coletiva - Uma Visão Transdisciplinar na Medicina Periodontal (Feira de Santana-Bahia, 2005) e prepararam este consenso, no qual estabeleceram as diretrizes para as investigações sobre a transdisciplinaridade na Medicina Periodontal, particularmente na questão da possível associação entre a doença periodontal e a prematuridade e baixo peso ao nascer. Resultados: Este consenso foi produzido após a apresentação de cada questão e extensa discussão pelos participantes do evento

Hydrocarbon decomposition in alumina membrane: an effective way to produce carbon nanotubes bundles.

Carbon nanotubes were synthesised within the pores of an alumina membrane. The membrane had 200 nm diameter pores and 60 microm thickness, and ethylene was used as carbon source. Membrane dissolution by HF results in a bundle of parallel open tubes, aligned without macroscopic defects. The external diameter of the tubes is uniform and there is no evidence of any amorphous carbon. Wall thickness control was obtained by varying the reaction time, length by the thickness of alumina membrane, and external tube diameter by the membrane pore size. Scanning (SEM) and transmission (TEM) electron microscopy, atomic force microscopy (AFM), X-ray diffraction, thermogravimetric analysis (TG) and surface area evaluation by nitrogen adsorption were used for the characterization of membrane and nanotubes.

"Safe" hyperbilirubinemia is associated with altered neonatal behavior.

Treatment of neonatal jaundice is currently recommended for higher bilirubinemia levels than before. Using the Brazelton Neonatal Behavior Assessment Scale, we found that a series of 28 healthy, untreated, term neonates with moderate bilirubinemia scored significantly less than an equal number of appropriately matched controls with low bilirubinemia for visual and auditory items, both inanimate and animate. Also, a greater lability of state, a lower self-quieting ability and more frequent tremors were found in the jaundiced group. We conclude that hyperbilirubinemia per se, even in the concentration range where phototherapy is not currently recommended, can give rise to alterations in neonatal behavior.