Background A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis... more Background A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturing variants genome-wide. To aid in the interpretation and prioritization of the vast number of variants detected, computational methods are proliferating. Knowing which tools are most effective remains unclear. To evaluate the performance of computational methods, and to encourage innovation in method development, we designed a Critical Assessment of Genome Interpretation (CAGI) community challenge to place variant prioritization models head-tohead in a real-life clinical diagnostic setting. Methods We utilized genome sequencing (GS) data from families sequenced in the Rare Genomes Project (RGP), a direct-to-participant research study on the utility of GS for rare disease diagnosis and gene discovery. Challenge predictors were provided with a dataset of variant calls and phenotype terms from 175 RGP individuals (65 families), including 35 solved training set families with causal variants specified, and 30 unlabeled test set families (14 solved, 16 unsolved). We tasked teams to identify causal variants in as many families as possible. Predictors submitted variant
ABSTRACTBackgroundA major obstacle faced by rare disease families is obtaining a genetic diagnosi... more ABSTRACTBackgroundA major obstacle faced by rare disease families is obtaining a genetic diagnosis. The average “diagnostic odyssey” lasts over five years, and causal variants are identified in under 50%. The Rare Genomes Project (RGP) is a direct-to-participant research study on the utility of genome sequencing (GS) for diagnosis and gene discovery. Families are consented for sharing of sequence and phenotype data with researchers, allowing development of a Critical Assessment of Genome Interpretation (CAGI) community challenge, placing variant prioritization models head-to-head in a real-life clinical diagnostic setting.MethodsPredictors were provided a dataset of phenotype terms and variant calls from GS of 175 RGP individuals (65 families), including 35 solved training set families, with causal variants specified, and 30 test set families (14 solved, 16 unsolved). The challenge tasked teams with identifying the causal variants in as many test set families as possible. Ranked var...
SARS-CoV-2 rapidly spread from China until it was defined a pandemic by WHO in March 2020. Relate... more SARS-CoV-2 rapidly spread from China until it was defined a pandemic by WHO in March 2020. Related scientific papers have rapidly extended information regarding the diagnosis, treatment and epidemiology of COVID-19 infection. To date, no vaccine or definitive treatment is available to defeat the virus and therapies are mainly based on existing drugs used to treat other conditions. Existing therapies used in several clinical trials work by affecting the biology of COVID-19 and/or counteracting the harmful host excessive immune response. Here, we have reviewed 526 ongoing clinical trials for COVID-19 to provide a perspective on the first 6 months of global efforts to identify an effective therapy. The drugs most actively tested in various centers include hydroxychloroquine, ritonavir, azithromycin, tocilizumab, lopinavir chloroquine and ivermectin. Our analysis shows that most clinical trials focus on a small number of candidate drugs (namely hydroxychloroquine and chloroquine representing 25% of total clinical trials) while underestimating the potential of other promising drugs. A global coordination in clinical trial management could avoid duplications and increase the effectiveness of the response to the global challenge.
In questo studio si indaga la relazione tra prese di posizione e decisioni assunte all’interno di... more In questo studio si indaga la relazione tra prese di posizione e decisioni assunte all’interno di un consiglio di quartiere di una città di medie dimensioni dell’Italia settentrionale. Si adotta la prospettiva teorica del Naturalistic Decision Making che dedica particolare attenzione agli aspetti contestuali delle prese di decisione. Il consiglio è considerato un'organizzazione post burocratica centrata sulla partecipazione dato che i cittadini possono partecipare direttamente agli incontri in cui si decide su questioni rilevanti per il quartiere. L'analisi discorsiva delle registrazioni audiovisive di due di queste riunioni ha permesso di studiare, in particolare, il rapporto tra prese di posizione e l'impiego di una specifica espressione linguistica da parte della portavoce di un'associazione cittadina e da parte di alcuni Consiglieri. I risultati mostrano che una proposta specifica fatta dai partecipanti assume un significato differente a seconda delle differenti posizioni argomentative in cui è pronunciata e che tali posizioni mediano la decisione finale dei Consiglieri
Giornale di Tecniche Nefrologiche e Dialitiche, 2013
Benzodiazepines, consisting of a benzene ring joined to a diazepine ring and a phenyl radical, ar... more Benzodiazepines, consisting of a benzene ring joined to a diazepine ring and a phenyl radical, are a class of drugs mainly used for the treatment of anxiety symptoms. They increase the transmission of gamma-aminobutyric acid (a kind of endogenous anxiolytic) and, therefore, they have an anxiolytic, sleep-inducing or sedative, myorelaxing, anticonvulsive, and anesthetic effect. They have minimal interactions with other drugs, but too often they are used as a long-term therapy instead of being used only when they are really necessary. The Territorial Pharmacist can play an important role in solving this problem. In patients with renal disease it is important to consider that the pharmacokinetics of these drugs, and therefore the absorption, degradation, and excretion of both their active principles and their metabolites are altered factors in case of kidney failure. Patients with renal disease make use of benzodiazepines more than the general population; however in these patients it is necessary to reduce the dose of about one third of the maximum dose allowed in patients with normal renal function. Additional research is also needed to investigate the main reasons of benzodiazepines use by patients with kidney disease.
Giornale di Tecniche Nefrologiche e Dialitiche, 2013
Recently we observed a renewed interest in home hemodialysis for the treatment of chronic renal d... more Recently we observed a renewed interest in home hemodialysis for the treatment of chronic renal disease thanks to the latest technological innovations, which allow to undergo this treatment more easily than in the past. The revival of this method raises an interesting debate in the scientific community; this debate has shown some critical positions in Italy through the NephroMeet platform. In this paper we highlight the main clinical evidences and the psychological and social effects of home hemodialysis, through a revision of the most recent literature and the conversational analysis of a successful case. Our perspective starts from the concept of health as defined by the WHO. We show how home extracorporeal hemodialysis presents important advantages, both clinical and psychosocial, and why it should be considered as a valid alternative after transplantation and peritoneal dialysis.
The main aim of this paper is to analyze the processes of discursive construction and positioning... more The main aim of this paper is to analyze the processes of discursive construction and positioning of cultural mediators who work in a public service. For this reason a case study represented by the cultural mediators of municipality counters of a middle-sized Northern Italian town has been chosen. Our paper is rooted on the theoretical and methodological perspective of Intercultural Psychology. Moreover it refers to Discourse Analysis and, within this perspective, to the construct of discursive positioning. The cultural mediators who work in a Council service on activities which are specific for migrants participated to this study, which has been conducted through semi-structured interviews. The excerpts that were selected from the transcriptions of the interviews allowed to identify the construction in interaction of specific rhetorical devices and interpretative repertoires. Results show how participants co-construct a value-related dimension which is also linked to their work pra...
Depression in patients affected by renal disease is a relevant problem because it is related to a... more Depression in patients affected by renal disease is a relevant problem because it is related to a increase of death and hospitalization rate and to a reduction of compliance. The pharmacological treatments result to be the best therapy of choice, however there is a greater difficulty in treating depressive symptoms that occur in comorbidity with renal disease, than when depression is the only disease. Various studies show that this problem can be addressed through an integrated pharmacological and psychotherapeutic intervention, which presents an additive effect in the treatment of this pathology. In relation to renal disease various studies suggest the effectiveness of psychotherapeutic intervention in the treatment of depressive symptoms, but more research is needed to compare the effectiveness of the different psychotherapeutic approaches.
ABSTRACT The main aim of this article is to present an intercultural communication study conducte... more ABSTRACT The main aim of this article is to present an intercultural communication study conducted in a municipal service, which focuses on how cultural mediators make sense of their work with migrants, being both representatives of an Italian institution as well as former foreigners/migrants themselves: their shared everyday context, common destiny and their understanding of users’ experiences. The study, on the whole, underlines how cultural mediators use personal aspects of their own lives to build a “bridge” between the migrant users and the institutions they represent, thus lessening the gap between migrants' past experience and their present lives.
This research investigates disagreements in decision making processes in a virtual setting, an ex... more This research investigates disagreements in decision making processes in a virtual setting, an experimental web simulation and in an everyday setting, involving a university research team from the Situated Action Theory perspective. The specific focus is on disagreements, because they lead to critical situations which put at stake two vital issues that are common between the simulation and the research team, namely, a limited amount of time and mutual aims that must be met within a set deadline. More specifically the study investigates: (1) how participants manage disagreements within these two contexts and (2) which theoretical and methodological implications Situated Action Theory suggests for studying both of them. The simulation in which the first part of this study takes place is a website in which participants had to choose a house to rent. It has been developed in four stages which involved 306 participants: a preliminary study, two validation studies and one study with singl...
Background A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis... more Background A major obstacle faced by families with rare diseases is obtaining a genetic diagnosis. The average "diagnostic odyssey" lasts over five years and causal variants are identified in under 50%, even when capturing variants genome-wide. To aid in the interpretation and prioritization of the vast number of variants detected, computational methods are proliferating. Knowing which tools are most effective remains unclear. To evaluate the performance of computational methods, and to encourage innovation in method development, we designed a Critical Assessment of Genome Interpretation (CAGI) community challenge to place variant prioritization models head-tohead in a real-life clinical diagnostic setting. Methods We utilized genome sequencing (GS) data from families sequenced in the Rare Genomes Project (RGP), a direct-to-participant research study on the utility of GS for rare disease diagnosis and gene discovery. Challenge predictors were provided with a dataset of variant calls and phenotype terms from 175 RGP individuals (65 families), including 35 solved training set families with causal variants specified, and 30 unlabeled test set families (14 solved, 16 unsolved). We tasked teams to identify causal variants in as many families as possible. Predictors submitted variant
ABSTRACTBackgroundA major obstacle faced by rare disease families is obtaining a genetic diagnosi... more ABSTRACTBackgroundA major obstacle faced by rare disease families is obtaining a genetic diagnosis. The average “diagnostic odyssey” lasts over five years, and causal variants are identified in under 50%. The Rare Genomes Project (RGP) is a direct-to-participant research study on the utility of genome sequencing (GS) for diagnosis and gene discovery. Families are consented for sharing of sequence and phenotype data with researchers, allowing development of a Critical Assessment of Genome Interpretation (CAGI) community challenge, placing variant prioritization models head-to-head in a real-life clinical diagnostic setting.MethodsPredictors were provided a dataset of phenotype terms and variant calls from GS of 175 RGP individuals (65 families), including 35 solved training set families, with causal variants specified, and 30 test set families (14 solved, 16 unsolved). The challenge tasked teams with identifying the causal variants in as many test set families as possible. Ranked var...
SARS-CoV-2 rapidly spread from China until it was defined a pandemic by WHO in March 2020. Relate... more SARS-CoV-2 rapidly spread from China until it was defined a pandemic by WHO in March 2020. Related scientific papers have rapidly extended information regarding the diagnosis, treatment and epidemiology of COVID-19 infection. To date, no vaccine or definitive treatment is available to defeat the virus and therapies are mainly based on existing drugs used to treat other conditions. Existing therapies used in several clinical trials work by affecting the biology of COVID-19 and/or counteracting the harmful host excessive immune response. Here, we have reviewed 526 ongoing clinical trials for COVID-19 to provide a perspective on the first 6 months of global efforts to identify an effective therapy. The drugs most actively tested in various centers include hydroxychloroquine, ritonavir, azithromycin, tocilizumab, lopinavir chloroquine and ivermectin. Our analysis shows that most clinical trials focus on a small number of candidate drugs (namely hydroxychloroquine and chloroquine representing 25% of total clinical trials) while underestimating the potential of other promising drugs. A global coordination in clinical trial management could avoid duplications and increase the effectiveness of the response to the global challenge.
In questo studio si indaga la relazione tra prese di posizione e decisioni assunte all’interno di... more In questo studio si indaga la relazione tra prese di posizione e decisioni assunte all’interno di un consiglio di quartiere di una città di medie dimensioni dell’Italia settentrionale. Si adotta la prospettiva teorica del Naturalistic Decision Making che dedica particolare attenzione agli aspetti contestuali delle prese di decisione. Il consiglio è considerato un'organizzazione post burocratica centrata sulla partecipazione dato che i cittadini possono partecipare direttamente agli incontri in cui si decide su questioni rilevanti per il quartiere. L'analisi discorsiva delle registrazioni audiovisive di due di queste riunioni ha permesso di studiare, in particolare, il rapporto tra prese di posizione e l'impiego di una specifica espressione linguistica da parte della portavoce di un'associazione cittadina e da parte di alcuni Consiglieri. I risultati mostrano che una proposta specifica fatta dai partecipanti assume un significato differente a seconda delle differenti posizioni argomentative in cui è pronunciata e che tali posizioni mediano la decisione finale dei Consiglieri
Giornale di Tecniche Nefrologiche e Dialitiche, 2013
Benzodiazepines, consisting of a benzene ring joined to a diazepine ring and a phenyl radical, ar... more Benzodiazepines, consisting of a benzene ring joined to a diazepine ring and a phenyl radical, are a class of drugs mainly used for the treatment of anxiety symptoms. They increase the transmission of gamma-aminobutyric acid (a kind of endogenous anxiolytic) and, therefore, they have an anxiolytic, sleep-inducing or sedative, myorelaxing, anticonvulsive, and anesthetic effect. They have minimal interactions with other drugs, but too often they are used as a long-term therapy instead of being used only when they are really necessary. The Territorial Pharmacist can play an important role in solving this problem. In patients with renal disease it is important to consider that the pharmacokinetics of these drugs, and therefore the absorption, degradation, and excretion of both their active principles and their metabolites are altered factors in case of kidney failure. Patients with renal disease make use of benzodiazepines more than the general population; however in these patients it is necessary to reduce the dose of about one third of the maximum dose allowed in patients with normal renal function. Additional research is also needed to investigate the main reasons of benzodiazepines use by patients with kidney disease.
Giornale di Tecniche Nefrologiche e Dialitiche, 2013
Recently we observed a renewed interest in home hemodialysis for the treatment of chronic renal d... more Recently we observed a renewed interest in home hemodialysis for the treatment of chronic renal disease thanks to the latest technological innovations, which allow to undergo this treatment more easily than in the past. The revival of this method raises an interesting debate in the scientific community; this debate has shown some critical positions in Italy through the NephroMeet platform. In this paper we highlight the main clinical evidences and the psychological and social effects of home hemodialysis, through a revision of the most recent literature and the conversational analysis of a successful case. Our perspective starts from the concept of health as defined by the WHO. We show how home extracorporeal hemodialysis presents important advantages, both clinical and psychosocial, and why it should be considered as a valid alternative after transplantation and peritoneal dialysis.
The main aim of this paper is to analyze the processes of discursive construction and positioning... more The main aim of this paper is to analyze the processes of discursive construction and positioning of cultural mediators who work in a public service. For this reason a case study represented by the cultural mediators of municipality counters of a middle-sized Northern Italian town has been chosen. Our paper is rooted on the theoretical and methodological perspective of Intercultural Psychology. Moreover it refers to Discourse Analysis and, within this perspective, to the construct of discursive positioning. The cultural mediators who work in a Council service on activities which are specific for migrants participated to this study, which has been conducted through semi-structured interviews. The excerpts that were selected from the transcriptions of the interviews allowed to identify the construction in interaction of specific rhetorical devices and interpretative repertoires. Results show how participants co-construct a value-related dimension which is also linked to their work pra...
Depression in patients affected by renal disease is a relevant problem because it is related to a... more Depression in patients affected by renal disease is a relevant problem because it is related to a increase of death and hospitalization rate and to a reduction of compliance. The pharmacological treatments result to be the best therapy of choice, however there is a greater difficulty in treating depressive symptoms that occur in comorbidity with renal disease, than when depression is the only disease. Various studies show that this problem can be addressed through an integrated pharmacological and psychotherapeutic intervention, which presents an additive effect in the treatment of this pathology. In relation to renal disease various studies suggest the effectiveness of psychotherapeutic intervention in the treatment of depressive symptoms, but more research is needed to compare the effectiveness of the different psychotherapeutic approaches.
ABSTRACT The main aim of this article is to present an intercultural communication study conducte... more ABSTRACT The main aim of this article is to present an intercultural communication study conducted in a municipal service, which focuses on how cultural mediators make sense of their work with migrants, being both representatives of an Italian institution as well as former foreigners/migrants themselves: their shared everyday context, common destiny and their understanding of users’ experiences. The study, on the whole, underlines how cultural mediators use personal aspects of their own lives to build a “bridge” between the migrant users and the institutions they represent, thus lessening the gap between migrants' past experience and their present lives.
This research investigates disagreements in decision making processes in a virtual setting, an ex... more This research investigates disagreements in decision making processes in a virtual setting, an experimental web simulation and in an everyday setting, involving a university research team from the Situated Action Theory perspective. The specific focus is on disagreements, because they lead to critical situations which put at stake two vital issues that are common between the simulation and the research team, namely, a limited amount of time and mutual aims that must be met within a set deadline. More specifically the study investigates: (1) how participants manage disagreements within these two contexts and (2) which theoretical and methodological implications Situated Action Theory suggests for studying both of them. The simulation in which the first part of this study takes place is a website in which participants had to choose a house to rent. It has been developed in four stages which involved 306 participants: a preliminary study, two validation studies and one study with singl...
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