Prenatal screening and counseling for genetic disorders

Introduction: The carriers of the same autosomal recessive disorder are usually unaware of onset of the genetic diseases in the children even if screenings are available for many of these disorders. In this paper, we report the experience of the Prenatal Diagnosis Center of AOU Federico II and we discuss the role of the screening for beta-thalassemia (BT), cystic fibrosis (CF) and for other rare genetic disorders. Materials and Methods: We analyzed retrospectively the indication for Prenatal Diagnosis (PD) of all the couples referred to our center from January 1993 to May 2013. We divided our sample into three groups: couples at high risk for BT, for CF and for other rare genetic disorders. Results: From January 1993 to May 2013, we performed 1269 PD for genetic disorders. There are still couples who discovered to be carriers of BT by screening after the birth of the affected child (n=51 (11,3%)); the majority of the people were screened for CF carrier after the birth of an affected child (n=155 (80,7%)) or through the cascade screening (n=28 (14,6%)). Large-scale screenings for rare genetic conditions are not available and people were screened only if they have a positive familial history. Conclusion: Parental screening is available for many severe and rare diseases whose genetic origin is known. The proportion of patients referred for very high-risk indications increased over time with an higher demand for rare disease. An adequate counseling is fundamental to identify women at risk for having affected child. Screening, counseling and PD of genetic diseases is a complex matter and needs for a continuous update

The yield curve and the prediction on the business cycle: a VAR analysis for the European Union

The literature on the yield curve deals with the capacity to predict the future inflation and the future real growth from the term structure of the interest rates. The aim of the paper is to verify this predictive power of the yield curve for the European Union at 16 countries in the 1995-2008 years. With this regard we propose two VAR models. The former is derived from the standard approach, the later is an extended version considering explicitly the macroeconomic effects of the risk premium. We propose the estimates of the models and their out-of-sample forecasts through both the European Union GDP (Gross Domestic Product) quarterly series and the European Union IPI (Industrial Production Index) monthly series. We show that the our extended model performs better than the standard model and that the out-of-sample forecasts of the IPI monthly series are better than ones of the GDP quarterly series. Moreover the out-of-sample exercises seems us very useful because they show the crowding out arising from Lehman Brother’s unexpected crash and the becoming next fine tuning process

The yield curve and the prediction on the business cycle: a VAR analysis for the European Union

The literature on the yield curve deals with the capacity to predict the future inflation and the future real growth from the term structure of the interest rates. The aim of the paper is to verify this predictive power of the yield curve for the European Union at 16 countries in the 1995-2008 years. With this regard we propose two VAR models. The former is derived from the standard approach, the later is an extended version considering explicitly the macroeconomic effects of the risk premium. We propose the estimates of the models and their out-of-sample forecasts through both the European Union GDP (Gross Domestic Product) quarterly series and the European Union IPI (Industrial Production Index) monthly series. We show that the our extended model performs better than the standard model and that the out-of-sample forecasts of the IPI monthly series are better than ones of the GDP quarterly series. Moreover the out-of-sample exercises seems us very useful because they show the crowding out arising from Lehman Brother’s unexpected crash and the becoming next fine tuning process

Thrombotic microangiopathies during pregnancy : The obstetrical and neonatal perspective

Thrombotic Microangiopathies during pregnancy and puerperium are very rare and, if undiagnosed, can be lifethreating. Pregnancy and postpartum can represent a trigger in predisposed patients. Therefore, obstetricians are usually the first to observe clinical symptoms and laboratory abnormalities suggestive of Thrombotic Microangiopathies. The aim of this review is to briefly describe the obstetrical and perinatal outcome of these entities and highlight the clues for a correct diagnosis of pregnancy-related Thrombotic Microangiopathies. (C) 2019 Elsevier B.V. All rights reserved.Peer reviewe

Risk of preeclampsia in of women who underwent chorionic villus sampling

OBJECTIVE: To assess the risk of preeclampsia in women who underwent chorionic villus sampling (CVS). STUDY DESIGN: This is a retrospective, single-center, cohort study. All consecutive singleton gestations who underwent chorionic villus sampling from January 2014 to January 2016 were included in the study. The primary outcome was the incidence of preeclampsia. Subgroup analysis in women with beta thalassemic trait was performed. Logistic regression, presented as adjusted odds ratio (aOR) with the 95% of confidence interval (CI), was performed. RESULTS: Five hundred forty-seven women who underwent CVS, and 1532 women who did not were analyzed. Women who underwent CVS had a significantly lower risk of preeclampsia (4.4 versus 8.0%; aOR 0.53, 95%CI 0.34-0.83), and late-onset preeclampsia (3.3 versus 6.1%; aOR 0.52, 95%CI 0.31-0.87). No statistically significant differences were found in preeclampsia with severe features, early-onset preeclampsia, and preterm birth (PTB). Women who underwent CVS due to thalassemic trait had a lower incidence of preeclampsia compare to those women who did not undergo CVS (3.3 versus 8.0%; aOR 0.39, 95%CI 0.14-0.87), while no differences were found comparing women who underwent CVS due to thalassemic trait with women who underwent CVS due to other reasons. CONCLUSIONS: Women who underwent first trimester CVS had a lower risk of preeclampsia compared to those who did not

Maternal Body Mass Index influences Umbilical Artery Doppler Velocimetry in physiologic pregnancies.

OBJECTIVES: The aim of our study was to assess whether there is a relationship between maternal body mass index (BMI) and umbilical artery Doppler velocimetry in physiologic pregnancies. METHODS: Healthy pregnancy women, referred to our center at or before 32 weeks of gestation, were recruited. According to BMI, they were divided into underweight (BMI < 18.5), normal weight (BMI 18.5-24.9), overweight (BMI 25.0-29.9) and obese women (BMI ≥ 30). At 32(+0)  weeks of gestation, maternal BMI and umbilical artery Doppler velocimetry were recorded. A correlation between pulsatility index of umbilical artery and BMI was assessed by one-way ANOVA test, multiple comparison test (Bonferroni correction) and polynomial regression. RESULTS: One hundred eighty-five women were included. Mean pulsatility index of umbilical artery at 32(+0) was significantly higher in obese women (0.95 ± 0.01 vs 0.87 ± 0.01 vs 0.67 ± 0.01; p < 0.05). We found a positive correlation between Pulsatility Index of Umbilical Artery and maternal BMI (r(2)  = 0.7; p < 0.05). CONCLUSION: There is a positive correlation between BMI and pulsatility index of umbilical artery. These findings suggest that obesity has a negative effect on feto-placetal vessels. If our data will be confirmed, maternal BMI should be considered in evaluation of umbilical Doppler velocimetry

Diagnostic accuracy of intracranial translucency in detecting spina bifida: a systematic review and meta-analysis

OBJECTIVE: To evaluate the diagnostic accuracy of intracranial translucency (IT) in the detection of spina bifida (SB) in the first trimester of pregnancy. METHODS: We included study assessing the accuracy of sonographic measurements of IT in a mid-sagittal view of the fetal face in prediction of SB in the first trimester of pregnancy. The primary outcome was the accuracy of IT in prediction of spina bifida. Summary estimates of sensitivity, specificity, positive and negative likelihood ratios (LR), and diagnostic odds ratio for the overall predictive accuracy of IT were computed. RESULTS: Nine studies (21 070 fetuses) were included in the analysis. IT was successfully assessed in the majority of fetuses 97.8% (95% CI 97.6-98.0). The diagnostic performance of IT in detecting SB was as follows: sensitivity: 53.5% (95% CI 42.4-64.3), specificity: 99.7% (95% CI 99.6-99.8), positive LR: 62.1 (95% CI 12.2-317), negative LR:0.55 (95% CI 0.45-0.68), and diagnostic odds ratio: 223 (95% CI 25-2039). CONCLUSIONS: Intracranial translucency had low diagnostic accuracy in prediction of open spina bifida, thus questioning its role as a screening marker for open SB in an unselected population. When looking at the individual study data, it appears that IT assessment for open SB prediction can be affected by a high rate of false positive results potentially leading to unnecessary parental anxiet

Adjunctive Clotiapine for the Management of Delusions in Two Adolescents with Anorexia Nervosa

open7noClotiapine is an atypical antipsychotic indicated for the management of a series of acute psychotic disorders. The current literature lacks evidence concerning the tolerability and clinical use of this drug in the management of individuals with anorexia nervosa (AN). In this study, we report two cases of adolescents with AN, treated with clotiapine. The reason for the administration of clotiapine was, for both patients, the manifestation of bizarre delusions concerning food and calories. Patient 1 presented a presyncope after the first dose of clotiapine, and treatment was rapidly discontinued. Patient 2 was treated with clotiapine for 9 months; doses were titrated from 20 mg/day to 70 mg/day, with an improvement in the reported delusions, which also enhanced compliance with psychological and nutritional interventions. EKG, QTc, white blood count, and red blood count were not relevantly influenced by the introduction of clotiapine in either patient. No extrapyramidal effect was documented. These reports stress the need for further studies assessing the tolerability and potential effect of clotiapine in treating adolescents with AN and delusional symptomatology.openJacopo Pruccoli , Giulia Joy Leone, Cristina Di Sarno, Luigi Vetri , Giuseppe Quatrosi , Michele Roccella, Antonia ParmeggianiJacopo Pruccoli , Giulia Joy Leone, Cristina Di Sarno, Luigi Vetri , Giuseppe Quatrosi , Michele Roccella, Antonia Parmeggian

Phenolic Profiles, Antioxidant and Anti-Inflammatory Activities of Hydrodistillation Wastewaters from Five Lamiaceae Species

Distillation is the most widely used method to obtain an essential oil from plant material. The biomass used in the process is returned as a solid residue together with variable amounts of water rich in water-soluble compounds, which currently are not addressed to any further application. The scope of this work was to evaluate the phytochemical composition of wastewaters coming from hydrodistillation (DWWs) of five aromatic plants belonging to the Lamiaceae family, and to assess their in vitro antioxidant and anti-inflammatory activities. The phenolic profiles of the DWWs were determined by HPLC-DAD and HPLC-ESI/MS. Free radical scavenging ability, oxygen radical antioxidant capacity and superoxide dismutase mimetic activity of the samples under study were measured. Moreover, to investigate the anti-inflammatory activity of the DWWs, an in vitro experimental model of intestinal inflammation was used. The DWW samples' phytochemical analysis allowed the identification of 37 phenolic compounds, all exhibiting good antioxidant and anti-inflammatory activity. Our study contributes to the knowledge on the polyphenolic composition of the DWWs of five aromatic plants of the Lamiaceae family. The results highlight the presence of compounds with proven biological activity, and therefore of great interest in the pharmaceutical and nutraceutical fields