Detection of Fetal Aneuploidies by QF-PCR in Transcervical Cell Samples

Objective. To evaluate the accuracy in the diagnosis of aneuploidies of a quantitative fluorescent polymerase chain reaction (QF-PCR) assay on trophoblastic cells recovered from transcervical cells samples (TCCs) collected by intrauterine lavage (IUL). Study Design. DNA analysis was performed on cells of seemingly trophoblastic origin isolated from IUL samples collected prior to first trimester termination of pregnancy. The analysis was performed by multiplex QF-PCR, using a panel of 29 polymorphic short tandem repeats (STRs) for the chromosomes X, Y, 21, 13, and 18. Results. The QF-PCR analysis on placental samples revealed that among the three cases studied there were two cases of trisomy 21 and one case of monosomy X; the comparison of peak profiles obtained from IUL, placental, and maternal samples confirmed the diagnosis of aneuploidy in all three cases. Conclusion. This study suggests that the detection of chromosomal aneuploidies in micromanipulated TCC samples can be achieved by QF-PCR amplification of selected highly polymorphic and chromosome specific markers. With respect to standard karyotype, QF-PCR analysis has the limitation that only numerical abnormalities of selected chromosomes can be detected but retains the advantages of being quicker, less expensive, and less lab demanding

Guidelines for the use of contrast-enhanced ultrasound in hepatocellular carcinoma

Abstract Surveillance of patients at risk of developing hepatocellular carcinoma (HCC) relies on ultrasound (US) examinations performed at 6-month intervals. Early detection of HCC on a cirrhotic background is a challenging issue, since the US features of the different entities in the multi-step process of hepatocarcinogenesis – such as low-grade and high-grade dysplastic nodule – do overlap. Contrast-enhanced US allows reliable detection of arterial neo-angiogenesis associated with the malignant change. Several reports have shown that the ability of contrast-enhanced US to diagnose HCC currently approaches that of optimised multidetector computed tomography (CT) or dynamic magnetic resonance (MR) imaging protocols. The use of contrast-enhanced US to characterise nodular lesions in cirrhosis has recently been recommended by the clinical practice guidelines issued by the European Federation of Societies for Ultrasound in Medicine and Biology and the American Association for the Study of Liver Diseases. Contrast-enhanced US has also been successfully used to assess response of HCC to image-guided percutaneous ablation procedures. In this article, we discuss the advantages and limitations of contrast-enhanced US with respect to the other imaging modalities in the setting of HCC

Link-Layer Coding for GNSS Navigation Messages

In this paper, we face the problem of ensuring reliability of Global Navigation Satellite Systems (GNSSs) in harsh channel conditions, where obstacles and scatter cause long outage events that cannot be counteracted with channel coding only. Our novel approach, stemming from information-theoretic considerations, is based on link-layer coding (LLC). LLC allows us to significantly improve the efficiency in terms of time-to-first-fix with respect to current operational GNSSs, which adopt carousel transmission. First, we investigate the maximum theoretical LLC gain under different Land Mobile Satellite channel conditions. Then, some practical LLC coding schemes, namely, fountain codes and a novel low-density parity-check plus low-rate repetition coding, are proposed and tested in realistic single-satellite and multi-satellite Land Mobile Satellite scenarios, considering the Galileo I/NAV message as study case. Simulation results show that our designed schemes largely improve on carousel transmission and achieve near-optimal performance with limited increase in complexity. Also, back-compatibility of LLC is assessed with respect to present-time GNSS specifications. © 2018 Institute of Navigation

Concurrent and predictive validity of the infant motor profile in infants at risk of neurodevelopmental disorders

BACKGROUND: Preterm infants and infants with perinatal brain injury show a higher incidence of neurodevelopmental disorders (NDD). The Infant Motor Profile (IMP) is a clinical assessment which evaluates the complexity of early motor behaviour. More data are needed to confirm its predictive ability and concurrent validity with other common and valid assessments such as the Alberta Infant Motor Scale (AIMS) and Prechtl's General Movement Assessment (GMA). The present study aims to evaluate the concurrent validity of the IMP with the AIMS, to assess its association with the GMA, to evaluate how the IMP reflects the severity of the brain injury and to compare the ability of the IMP and the AIMS to predict an abnormal outcome in 5-month-old infants at risk of NDD.METHODS: 86 infants at risk of NDD were retrospectively recruited among the participants of two clinical trials. Preterm infants with or without perinatal brain injury and term infants with brain injury were assessed at 3months corrected age (CA) using the GMA and at 5months CA using the IMP and the AIMS. The neurodevelopmental outcome was established at 18months.RESULTS: Results confirm a solid concurrent validity between the IMP Total Score and the AIMS (Spearman's rho 0.76; p<.001) and a significant association between IMP Total Score and the GMA. Unlike the AIMS, the IMP Total score accurately reflects the severity of neonatal brain injury (p<.001) and proves to be the strongest predictor of NDD (p<.001). The comparison of areas under receiver operating characteristic curves (AUC) confirms that the IMP Total score has the highest diagnostic accuracy at 5months (AUC 0.92). For an optimal IMP Total Score cut-off value of 70, the assessment shows high sensitivity (93%) and specificity (81%) (PPV 84%; NPV 90%).CONCLUSIONS: Early motor behaviour assessed with the IMP is strongly associated with middle-term neurodevelopmental outcome. The present study confirms the concurrent validity of the IMP with the AIMS, its association with the GMA and its ability to reflect brain lesion load, hence contributing to the construct validity of the assessment.TRIAL REGISTRATION: NCT01990183 and NCT03234959 (clinicaltrials.gov)

influence of mechanical parameters on non linear static analysis of masonry buildings a relevant case study

Abstract In seismic zones, suitable procedures to assess the seismic vulnerability of existing buildings are necessary also in view of optimal planning of interventions. Starting from the agreement between the Municipality of Florence and the Department of Civil and Industrial Engineering of the University of Pisa, a research program is ongoing, devoted to setup a simplified, fast but reliable procedure for the evaluation of seismic performance of masonry buildings. In this paper, a simplified non-linear pushover type method for the verification of unreinforced multi-story masonry buildings with both deformable and non-deformable slabs is presented, starting from some of the basic assumptions of the POR method. Various tests on the procedure show that the method is able to give results that are comparable with those obtained by the classical pushover analysis performed on equivalent frame models. The intuitiveness of the method and the low computational effort required by the new algorithm allow the evaluation of the sensitivity of non-linear static analysis regarding the definition of mechanical parameters. In particular, the relevant influence of the modulus of elasticity as well as the ultimate inter-story displacement assumed for masonry walls on the assessment of seismic performance are discussed in detail. The results are presented for a significant case study, the Primary School "G. Carducci" in Florence, a four-story masonry building, with a horseshoe layout where lateral appendixes detached from the central block

Preeclampsia in Lean Normotensive Normotolerant Pregnant Women Can Be Predicted by Simple Insulin Sensitivity Indexes

Certain similarities between preeclampsia and insulin resistance syndrome suggest a possible link between the 2 diseases. The aim of our study was to evaluate 3 insulin sensitivity (IS) indexes (fasting homeostasis model assessment IS [IS HOMA ], quantitative insulin sensitivity check index [IS QUICKI ], and oral glucose IS [OGIS]) early and late in pregnancy in a large number of normotensive pregnant women with a normal glucose tolerance and to test the ability of these indexes to predict the risk of subsequent preeclampsia. In all, 829 pregnant women were tested with a 75-g, 2-hour oral glucose load in 2 periods of pregnancy: early (16 to 20 weeks) and late (26 to 30 weeks). In early and late pregnancy, respectively, IS HOMA was 1.23±0.05 and 1.44±0.05 ( P <0.01), IS QUICKI was 0.40±0.002 and 0.38±0.002 ( P <0.01), and OGIS was 457±2.4 mL min −1 m −2 and 445±2.2 ( P <0.001), all confirming the reduction in insulin sensitivity during pregnancy. Preeclampsia developed in 6.4% of the pregnant women and correlated positively with the 75th centile of IS HOMA ( P =0.001), with a sensitivity of 79% in the early and 83% in the late period and a specificity of 97% in both. IS QUICKI <25th centile was also related with preeclampsia ( P =0.001), with a sensitivity of 85% in the early and 88% in the late period and a specificity of 97% in both. Judging from our findings, IS HOMA and IS QUICKI are simple tests that can pinpoint impaired insulin sensitivity early in the pregnancy. Given their high sensitivity and specificity, these indexes could be useful in predicting the development of preeclampsia in early pregnancy, before the disease become clinically evident

The association of kynurenine pathway metabolites with symptom severity and clinical features of bipolar disorder: An overview

Background. The balance between neurotoxic and neuroprotective effects of kynurenine pathway (KP) components has been recently proposed as a key element in the pathophysiology of bipolar disorder (BD) and related mood episodes. This comprehensive overview explored the link of KP with symptom severity and other clinical features of BD. Methods. We searched Medline, Embase, and PsycInfo electronic databases for studies assessing the association of peripheral and/or central concentrations of KP metabolites with putative clinical features, including symptom severity and other clinical domains in BD. Results. We included the findings of 13 observational studies investigating the possible variations of KP metabolites according to symptom severity, psychotic features, suicidal behaviors, and sleep disturbances in BD. Studies testing the relationship between KP metabolites and depression severity generated mixed and inconsistent findings. No statistically significant correlations with manic symptoms were found. Moreover, heterogeneous variations of the KP across different clinical domains were shown. Few available studies found (a) higher levels of cerebrospinal fluid kynurenic acid and lower of plasma quinolinic acid in BD with psychotic features, (b) lower central and peripheral picolinic acid levels in BD with suicide attempts, and (c) no significant correlations between KP metabolites and BD-related sleep disturbances. Conclusions. An imbalance of KP metabolism toward the neurotoxic branches is likely to occur in people with BD, though evidence on variations according to specific clinical features of BD is less clear. Additional research is needed to clarify the role of KP in the etiopathogenesis of BD and related clinical features

The 75-Gram Glucose Load in Pregnancy

OBJECTIVE—To investigate, in pregnant women without gestational diabetes mellitus (GDM), the relation among obstetric/demographic characteristics; fasting, 1-h, and 2-h plasma glucose values resulting from a 75-g glucose load; and the risk of abnormal neonatal anthropometric features and then to verify the presence of a threshold glucose value for a 75-g glucose load above which there is an increased risk for abnormal neonatal anthropometric characteristics. RESEARCH DESIGN AND METHODS—The study group consisted of 829 Caucasian pregnant women with singleton pregnancy who had no history of pregestational diabetes or GDM, who were tested for GDM with a 75-g, 2-h glucose load, used as a glucose challenge test, in two periods of pregnancy (early, 16–20 weeks; late, 26–30 weeks), and who did not meet the criteria for a GDM diagnosis. In the newborns, the following abnormal anthropometric characteristics were considered as outcome measures: cranial/thoracic circumference (CC/TC) ratio ≤10th percentile for gestational age (GA), ponderal index (birth weight/length3 × 100) ≥90th percentile for GA, and macrosomia (birth weight ≥90th percentile for GA), on the basis of growth standard development for our population. For the first part of the objective, logistic regression models were used to identify 75-g glucose load values as well as obstetric and demographic variables as markers for abnormal neonatal anthropometric characteristics. For the second part, the receiver operating characteristic (ROC) curve was performed for the 75-g glucose load values to determine the plasma glucose threshold value that yielded the highest combined sensitivity and specificity for the prediction of abnormal neonatal anthropometric characteristics. RESULTS—In both early and late periods, maternal age &gt;35 years was a predictor of neonatal CC/TC ratio ≤10th percentile and macrosomia, with fasting 75-g glucose load values being independent predictors of neonatal CC/TC ratio ≤10th percentile. In both periods, 1-h values gave a strong association with all abnormal neonatal anthropometric characteristics chosen as outcome measures, with maternal age &gt;35 years being an independent predictor for macrosomia. The 2-h, 75-g glucose load values were significantly associated in both periods with neonatal CC/TC ratio ≤10th percentile and ponderal index ≥90th percentile, whereas maternal age &gt;35 years was an independent predictor of both neonatal CC/TC ratio ≤10th percentile and macrosomia. In the ROC curves for the prediction of neonatal CC/TC ratio ≤10th percentile for GA in both early and late periods of pregnancy, inflection points were identified for a 1-h, 75-g glucose load threshold value of 150 mg/dl in the early period and 160 mg/dl in the late period. CONCLUSIONS—This study documented a significant association, seen even in the early period of pregnancy, between 1-h, 75-g glucose load values and abnormal neonatal anthropometric features, and provided evidence of a threshold relation between 75-g glucose load results and clinical outcome. Our results would therefore suggest the possibility of using a 75-g, 1-h oral glucose load as a single test for the diagnosis of GDM, adopting a threshold value of 150 mg/dl at 16–20 weeks and 160 mg/dl at 26–30 weeks