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Search Results: 1 - 10 of 3164 matches for " Francesca Romana Grati "
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Recombinant Chromosome 4 from a Familial Pericentric Inversion: Prenatal and Adulthood Wolf-Hirschhorn Phenotypes
Francesca Malvestiti,Francesco Benedicenti,Simona De Toffol,Sara Chinetti,Adelheid H?ller,Beatrice Grimi,Gertrud Fichtel,Monica Braghetto,Cristina Agrati,Eleonora Bonaparte,Federico Maggi,Giuseppe Simoni,Francesca Romana Grati
Case Reports in Genetics , 2013, DOI: 10.1155/2013/306098
Abstract: Pericentric inversion of chromosome 4 can give rise to recombinant chromosomes by duplication or deletion of 4p. We report on a familial case of Wolf-Hirschhorn Syndrome characterized by GTG-banding karyotypes, FISH, and array CGH analysis, caused by a recombinant chromosome 4 with terminal 4p16.3 deletion and terminal 4q35.2 duplication. This is an aneusomy due to a recombination which occurred during the meiosis of heterozygote carrier of cryptic pericentric inversion. We also describe the adulthood and prenatal phenotypes associated with the recombinant chromosome 4. 1. Introduction Wolf-Hirschhorn Syndrome (WHS) results from partial deletion of the distal short arm of chromosome 4 (4p16.3). The clinical features are variable, with increasing severity depending on the extent of the deletion, although the minimal diagnostic criteria should include the association of typical facial appearance, growth delay, mental retardation, and seizures [1]. Considering that small and large 4p16.3 deletions are associated with mild and severe WHS phenotype, respectively, Zollino et al. [1] have suggested a WHS classification in three categories based on the clinical presentation, all sharing the minimal diagnostic criteria: “mild” form (deletions < 3.5?Mb) refers to patients with a mild mental retardation (MR), possible fluent language, and usually independent walking by the age of 2-3 years; “classical” form (deletions 5–18?Mb) is characterized by major malformations, severe psychomotor delay (PMD), delay or absence of speech, and late walking; “severe” one (deletions > 22–25?Mb) has severe PMD and MR, facial anomalies, severe scoliosis, and psychotic behaviour. At a molecular level, two WHS critical regions (WHSCRs) have been identified: the WHSCR region, which is 165?Kb in size and it is located at about 2?Mb from the telomere between the markers D4S166 and D4S3327 [2], and the WHSCR-2 region which embraces a 300–600?Kb interval between the loci D4S3327 and D4S168 and it is mapped distal to WHSCR at about 1,9?Mb from the telomere [1]. Most of the 4p16 deletions involved in WHS occur de novo, but in 10%–15% of cases the derivative chromosome 4 originate from chromosomal rearrangements in one of the parents. Four different rearrangements are reported [1]: (1) isolated 4p deletion (70% of patients); (2) unbalanced translocation (22%); (3) inverted duplication associated with terminal 4p deletion (6%); (4) recombinant chromosome 4, rec(4), consisting of unbalanced pericentric inversion with a large 4q segment duplicated on the deleted 4p (2%). Herein we describe a
Gender differences in Italian immigrants’ online interactions
Francesca Romana Seganti
Antrocom : Online Journal of Anthropology , 2008,
Abstract: This paper analyses the impact of gender differences on online interaction dynamics. I will expose the related findings from a qualitative study about the social and cultural role of Italianialondra.com, an online community created 2003 to encourage communication among first generation Italian immigrants in London. From the analysis of the respondents’ in-depth interviews – nine women and eleven men – variations in attitudes towards technologies, and online communication patterns based on gender, emerged. Findings cover the following: ‘gender and access’, ‘gender and general attitudes’, ‘gender and mutual support’, and ‘the reconstruction of gender stereotypes’. These topics are all interrelated. I conclude that implementing the Website in a women-friendly style could widen the boundaries of electronic space and bring about changes in existing hierarchies of power and privilege.
A Review of the Maritime Container Shipping Industry as a Complex Adaptive System
Simone Caschili,Francesca Romana Medda
Interdisciplinary Description of Complex Systems , 2012,
Abstract: If we consider the worldwide maritime shipping industry as a system, we observe that a large number of independent rational agents such as port authorities, shipping service providers, shipping companies, and commodity producers play a role in achieving predominant positions and in increasing market share. The maritime shipping industry can, from this perspective, be defined as a Complex System composed of relatively independent parts that constantly search, learn and adapt to their environment, while their mutual interactions shape obscure but recognizable patterns. In this work we examine the maritime shipping industry through the Complex Adaptive System (CAS). Although CAS has been applied widely to the study of biological and social systems, its application in maritime shipping is scant. Therefore, our objective in the present paper is to provide a literature review that examines the international maritime industry through the lens of CAS. We also present some of the goals that may be achieved by applying the CAS approach to the container shipping industry in particular. The construction of a tenable ontological framework will give scholars a comprehensive view of the maritime industry and allow them to test the stability and efficiency of the framework to endogenous and exogenous shocks.
Psychopathological risks in children with migrant parents
Francesca Romana Montecchi,Catia Bufacchi
Dialogues in Philosophy, Mental and Neuro Sciences , 2009,
Abstract: In Western societies many immigrants live in difficult social and working conditions. Together with other factors, this state of affairs represents a risk for the well being of their children. This article will consider the principle risk factors for child psychopathology and/or distress, with a distinction between temporary and permanent factors and with a peculiar attention to the interplay between risk and protective factors. Risk factors can be ordered in cultural, social, familiar/parental and individual factors. Some of these are general risk factors, applying to child and adolescent psychopathology and distress independently from the status of immigrants’ offspring (among them there are some risk factors related to poor social conditions, independently from being an immigrant or a low-social-class Western citizen). Other factors are specific of migration, some of them being related to: a) different ways of immigrated families to situate themselves within the host society (assimilation, separation, integration, marginality); b) cultural/familiar attitudes in child’s nurture and education; c) the family role of women as well as factors specific of the pregnancy period in immigrants; d) the ability of the school system to enhance and support children’s abilities to integrate within the new society; e) the political/bureaucratic facilitation/impediment to the regularization of VISA, with the consequent effect on the sense of identity/rejection within/from the host society.In conclusion, the programs for monitoring immigrants’ living and health conditions should also include: the assessment of parental skills, the dynamic indicators of risk and protection indexes, the assessment of living conditions and social school environment, with a careful attention to those early signs of discomfort that might precede possible later onset of psychopathology and/or social distress.
Global smooth solutions for a hyperbolic chemotaxis model on a network
Francesca Romana Guarguaglini,Roberto Natalini
Mathematics , 2014,
Abstract: In this paper we study a semilinear hyperbolic-parabolic system modeling biological phenomena evolving on a network composed by oriented arcs. We prove the existence of global (in time) smooth solutions to this problem. The result is obtained by using energy estimates with suitable transmission conditions at nodes.
A Focus on the Diagnosis of Early Rheumatoid Arthritis  [PDF]
Marta Olivieri, Maria Chiara Gerardi, Francesca Romana Spinelli, Manuela Di Franco
International Journal of Clinical Medicine (IJCM) , 2012, DOI: 10.4236/ijcm.2012.37116
Abstract:

Nowadays it is worldwide accepted that early diagnosis and early treatment of Rheumatoid Arthritis (RA) can improve the prognosis in most of patients. In this way, the 2010 ACR/EULAR Rheumatoid Arthritis classification criteria have shown to be more sensitive than the ACR 1987 criteria and include better patients with early RA. Other important point to focus on is to identify predictive factors for outcome, in order to propose a more aggressive treatment for early RA patients who could develop a persistent and/or erosive disease. The presence of Rheumatoid Factors (RF) and Anti- citrullinated peptides antibobies (ACPA), as well as the duration of the disease at the time of diagnosis, are independent risk factors for the development of erosive RA. As for imaging, both traditional X-ray and Magnetic Resonance Imaging (MRI) highlight respectively the Rapid Radiological Progression (RRP) and the presence of bone edema which are associated to a more aggressive disease. In the last years, the musculoskeletal ultrasonography (MSUS) has emerged as a useful imaging technique since it allows to identify synovitis and bone alteration earlier than the radiological examination. Interating clinical, serological and imaging data the clinician can define the effective disease activity of each patient.

Qualitative and Quantitative Validation of the Micro Biological Survey Method for Listeria spp., Salmonella spp., Enterobacteriaceae and Staphylococcus aureus in Food Samples
Francesca Losito,Giorgia Bottini,Alessio De Ascentis,Francesca Romana Priolisi
American Journal of Food Technology , 2012,
Abstract: The objective of the present study was the preliminary validation of the qualitative MBS method for Salmonella spp. and Listeria spp. and the quantitative MBS method for Enterobacteriaceae and Staphylococcus aureus. The MBS method is a rapid alternative method for the detection and selective counting of bacteria in agro-food, in water and in environmental samples. It is based on a colorimetric survey in mono-use disposable reaction vials that can be filled with the samples without any preliminary treatment (e.g., homogenization, dilution, etc.); the greater the number of bacteria present in the sample, the faster the color changes. For the qualitative validation of the MBS method for Salmonella spp. and Listeria spp., selectivity, relative accuracy, relative specificity and relative sensitivity were determined. Selectivity, linearity and accuracy were analyzed for the quantitative validation of the MBS method for Enterobacteriaceae and Staphylococcus aureus. The validation here reported has shown that the MBS method for Listeria spp., Salmonella spp., Enterobacteriaceae and S. aureus give similar results and are in agreement with the reference method.
Validation of the Micro Biological Survey Method for Total Viable Count and E. coli in Food Samples
Giorgia Bottini,Francesca Losito,Alessio De Ascenti,Francesca Romana Priolisi
American Journal of Food Technology , 2011,
Abstract: The aim of this study was the validation of the Micro Biological Survey (MBS) method for microbiological analysis of food for Total Viable Count (TVC) and Escherichia coli (E. coli). The MBS method is a rapid quantitative alternative method for the detection and selective counting of bacteria in agro-food, in water and in environmental samples. It is based on colorimetric survey in mono-use disposable reaction vials that must be filled with the samples without any preliminary treatment (e.g., homogenization, dilution, etc.); the greater the number of bacteria presents into the sample, the faster the color change. However, an independent evaluation of the analytical results obtained with MBS method would be required before commercialization. Therefore, this alternative method was validated in comparison to the reference method. The general estimate of precision, reliability, uncertainty, linearity, accuracy and selectivity were determined. All the performance parameters have demonstrated total correlation between the alternative method and the reference method for the detection and counting of TVC and E. coli both in artificially contaminated and in naturally contaminated samples. MBS assay can be used as rapid and user friendly screening method for detection of TVC and E. coli in food industry.
Non-Conventional MRI Techniques as an Alternative Role to the Clinical Diagnosis in Alzheimer’s Disease  [PDF]
Elisabetta Giugni, Rita Vadalà, Francesca Romana Pezzella, Giuseppe Bomboi, Stefano Galletti, Giacomo Luccichenti, Carmela Colica, Orietta Picconi, Stefano Bastianello
Health (Health) , 2014, DOI: 10.4236/health.2014.619310
Abstract: Improved methods for early diagnosis and non-invasive surrogates for the diagnosis of disease severity in Alzheimer’s disease (AD) are becoming the new challenge. Dementia can now be accurately determined through clinical evaluation, cognitive screening, basic laboratory evaluation and structural imaging. Magnetic resonance (MRI) techniques are being evaluated as possible surrogate measures to monitor disease progression. The purpose of this work is to correlate the results of combined advanced MR techniques with neuropsychological performance in order to identify a sensible and sensitive imaging approach to quantify neurodegenerative disease progression. One of the most relevant evidences in our study is the degeneration of the fibers of the corpus callosum in the pathogenesis of cognitive disorders in AD patients, as demonstrated by the relationship between altered neuropsychological tests and reduced FA (Fractional Anisotrophy) values of the corpus callosum in such patients. This data is also integrated by the evidence of anatomic reduction of the total volume of the corpus callosum assessed by FreeSurfer, thus supporting the hypothesis that the “brain disconnects” play a key role in the pathogenesis of AD. Statistical evaluation of regression consisting in the identification of different numerical coefficients that are multiplied by the thickness of the right fusiform value or by the volume of left inferoparietal region and left middle-temporal region, allows us to obtain the predictive numeric value of the related neuropsychological test. Combination of non-conventional magnetic resonance imaging, including morphometry, spectroscopy, MD (mean diffusivity) and FA evaluation, could be an alternative to clinic in the evaluation of neurodegeneration in AD.
VIRAL CIRRHOSIS: AN OVERVIEW OF HAEMOSTATIC ALTERATIONS AND CLINICAL CONSEQUENCES
Francesca Romana Ponziani,Valerio De Stefano,Antonio Gasbarrini
Mediterranean Journal of Hematology and Infectious Diseases , 2009, DOI: 10.4084/mjhid.2011.
Abstract: Viral hepatitis is a major health problem worldwide, the principal cause of cirrhosis and hepatocarcinoma. Once cirrhosis occurs, the consequences of liver dysfunction and portal hypertension become evident and, sometimes, life threatening for patients. Among the various complications of liver cirrhosis, the alteration of haemostatic balance is often a hard challenge for the clinician, since it is capable to predispose both to bleeding or thrombosis. In this review, we analyze the principal aspects of procoagulant, anticoagulant and fibrinolytic capacity of cirrhotic patients, which appears to be variably altered in all these aspects, not only in the direction of a tendency to bleeding. Laboratory investigations, at present, may provide only a partial representation of this condition, because of the impossibility to obtain a test capable to furnish a global overview of the haemostatic system and to reproduce in vivo conditions. Furthermore, we describe the pathophysiological mechanisms underlying bleeding manifestations and thrombosis development in cirrhotic patients, which should be considered not only as obvious consequences of the advanced liver disease but, rather, as the result of a complex interaction between inherited and acquired factors.
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