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

Thromboembolic events and haematological diseases: a case of stroke as clinical onset of a paroxysmal nocturnal haemoglobinuria

Some haematological diseases are associated to an increased risk of thromboembolic events. We report a case of paroxysmal nocturnal haemoglobinuria (PNH) in which a cerebrovascular event represented the first clinical manifestation of disease. PNH is associated to thromboembolic events, generally of venous districts often involving unusual locations such as mesenteric vessels, sagittal veins, inferior vena cava and renal veins. To our knowledge arterial thrombotic episodes are rare and the involvement of arterial cerebral vessels is exceptional. Then, our case points out the importance of investigating about haematological disorders in all patients presenting with a stroke, in which the common predisposing conditions are excluded

Congenital diarrhoeal disorders: advances in this evolving web of inherited enteropathies.

Congenital diarrhoeal disorders (CDDs) represent an evolving web of rare chronic enteropathies, with a typical onset early in life. In many of these conditions, severe chronic diarrhoea represents the primary clinical manifestation, whereas in others diarrhoea is only a component of a more complex multi-organ or systemic disorder. Typically, within the first days of life, diarrhoea leads to a life-threatening condition highlighted by severe dehydration and serum electrolyte abnormalities. Thus, in the vast majority of cases appropriate therapy must be started immediately to prevent dehydration and long-term, sometimes severe, complications. The number of well-characterized disorders attributed to CDDs has gradually increased over the past several years, and many new genes have been identified and functionally related to CDDs, opening new diagnostic and therapeutic perspectives. Molecular analysis has changed the diagnostic scenario in CDDs, and led to a reduction in invasive and expensive procedures. Major advances have been made in terms of pathogenesis, enabling a better understanding not only of these rare conditions but also of more common diseases mechanisms

Guest Editorial: Knowledge and trust in data-rich business environments

The goal of the Special Issue is to investigate how knowledge and trust can be developed, employed, diffused, and protected in business ecosystems, where data are the main asset for several actors. The issue contains six papers who have investigated these topics from different theoretical perspectives and by means of different methodological approaches. They represent an interesting combination of theoretical essays, research reviews and empirical studies. In addition, some of them focus on firms, some on consumers, and others on researchers who, like other actors today, need to find their way in the abundance of data and methodologies

Diagnostic reliability of the cervical vertebral maturation method and standing height in the identification of the mandibular growth spurt

5siObjective: To evaluate the capability of both cervical vertebral maturation (CVM) stages 3 and 4 (CS3-4 interval) and the peak in standing height to identify the mandibular growth spurt throughout diagnostic reliability analysis. Materials and Methods: A previous longitudinal data set derived from 24 untreated growing subjects (15 females and nine males,) detailed elsewhere were reanalyzed. Mandibular growth was defined as annual increments in Condylion (Co)-Gnathion (Gn) (total mandibular length) and Co-Gonion Intersection (Goi) (ramus height) and their arithmetic mean (mean mandibular growth [mMG]). Subsequently, individual annual increments in standing height, Co-Gn, Co-Goi, and mMG were arranged according to annual age intervals, with the first and last intervals defined as 7-8 years and 15-16 years, respectively. An analysis was performed to establish the diagnostic reliability of the CS3-4 interval or the peak in standing height in the identification of the maximum individual increments of each Co-Gn, Co-Goi, and mMG measurement at each annual age interval. Results: CS3-4 and standing height peak show similar but variable accuracy across annual age intervals, registering values between 0.61 (standing height peak, Co-Gn) and 0.95 (standing height peak and CS3-4, mMG). Generally, satisfactory diagnostic reliability was seen when the mandibular growth spurt was identified on the basis of the Co-Goi and mMG increments. Conclusions: Both CVM interval CS3-4 and peak in standing height may be used in routine clinical practice to enhance efficiency of treatments requiring identification of the mandibular growth spurt.openopenPerinetti, Giuseppe; Contardo, Luca; Castaldo, Attilio; Mcnamara, James A.; Franchi, LorenzoPerinetti, Giuseppe; Contardo, Luca; Castaldo, Attilio; Mcnamara, James A.; Franchi, Lorenz

Dental Malocclusion and Body Posture in Young Subjects: A Multiple Regression Study

OBJECTIVES: Controversial results have been reported on potential correlations between the stomatognathic system and body posture. We investigated whether malocclusal traits correlate with body posture alterations in young subjects to determine possible clinical applications. METHODS: A total of 122 subjects, including 86 males and 36 females (age range of 10.8-16.3 years), were enrolled. All subjects tested negative for temporomandibular disorders or other conditions affecting the stomatognathic systems, except malocclusion. A dental occlusion assessment included phase of dentition, molar class, overjet, overbite, anterior and posterior crossbite, scissorbite, mandibular crowding and dental midline deviation. In addition, body posture was recorded through static posturography using a vertical force platform. Recordings were performed under two conditions, namely, i) mandibular rest position (RP) and ii) dental intercuspidal position (ICP). Posturographic parameters included the projected sway area and velocity and the antero-posterior and right-left load differences. Multiple regression models were run for both recording conditions to evaluate associations between each malocclusal trait and posturographic parameters. RESULTS: All of the posturographic parameters had large variability and were very similar between the two recording conditions. Moreover, a limited number of weakly significant correlations were observed, mainly for overbite and dentition phase, when using multivariate models. CONCLUSION: Our current findings, particularly with regard to the use of posturography as a diagnostic aid for subjects affected by dental malocclusion, do not support existence of clinically relevant correlations between malocclusal traits and body postur

Seismic reliability-based design of hardening structures equipped with double sliding devices

This study deals with seismic reliability-based design (SRBD) relationships in terms of beha-vior factors and displacement demands for hardening structures equipped with double fric-tion pendulum system (DFPS) bearings. An equivalent 3dof system having a hardening post-yield slope is adopted to describe the superstructure behavior, whereas velocity-dependent laws are assumed to model the responses of the two surfaces of the DFPS. The yielding cha-racteristics of the superstructures are defined for increasing behavior factors in compliance with the seismic hazard of L’Aquila site (Italy) and with NTC18 assuming a lifetime of 50 years. Considering several natural seismic records and building properties under the hypo-thesis of modelling the friction coefficients of the two surfaces of the DFPS as random variables, incremental dynamic analyses are performed to evaluate the seismic fragility and the seismic reliability of these systems. Finally, seismic reliability is evaluated and seismic relia-bility-based design (SRBD) curves for the two surfaces of the double sliding devices are de-scribed

Influence of Masonry Infills on Seismic Performance of an Existing RC Building Retrofitted by Means of FPS Devices

The safety assessment of existing structures in areas with a relevant seismic hazard is one of the major topics for engineers since many existing reinforced concrete structures have been realized disregarding seismic design with minimal details with respect to present practice. In this context, seismic assessment is a primary issue in order to identify the best retrofitting solution with the aim of enhancing the efficiency of existing buildings. In recent years, with the aim to enhance the seismic behavior of reinforced concrete (RC) structures (with particular care to existing ones), the system of seismic isolation adopting friction pendulum (FPS) devices proved to be among the most diffuse and effective solutions. The purpose of this paper is to explore the effectiveness of the refurbishment using FPS with single concavity devices on the performance of one irregular existing RC building placed in a highly seismic area of central Italy. First, the geometric and material characteristics of the building have been determined within the approach based on the "knowledge levels". Second, a suitable numerical model based on a fiber-modeling approach has been established using SAP2000, including relevant mechanical non-linearities. Then, a set of 21 natural seismic inputs, inclusive of 3 accelerations over vertical and horizontal directions, was adopted with the aim of performing non-linear (NL) dynamic simulations. The NL dynamic simulations have been performed considering the structural system, both inclusive and not inclusive of the FPS isolator devices. The influence of the actual distribution of infill masonry panels on the overall behavior of the structure has also been evaluated in both of the cases mentioned above. Finally, the outcomes deriving from the NL dynamic simulations were helpful in assessing the advantages of the intervention of retrofitting to improve the seismic performance of the building, highlighting the influence of masonry infills

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