Pub Date : 2022-01-01DOI: 10.53141/qacp.2022.128-132
F. Orlando, Germana Nardini, Daniele De Brasi
Autoinflammatory diseases (AIDs) are a family of rare medical entities, characterized by sterile systemic inflammatory episodes caused by exaggerated activation of the innate immune system, for which the pathogenic role of autoantibodies, B or T cells is less relevant. During the past 20 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. Proteins encoded by these genes are involved in the regulatory pathways of inflammation and they are mostly expressed in cells of the innate immune system. Since symptoms can overlap within this rapidly expanding disease category, accurate genetic diagnosis is extremely important to start early targeted treatment and to prevent clinically significant or life-threatening complications. On the other hand, detection of more and more genetic variants makes interpretation of results more complicated, and often a genetic diagnosis is not achieved. Thus, the clinical picture represents the starting point for establishing an effective therapy when genetic data are not sufficient or inconclusive. Biologic agents blocking cytokines action have proved to be dramatically effective in a lot of patients.
{"title":"Le malattie autoinfiammatorie: aspetti patogenetici e clinici (Prima parte)","authors":"F. Orlando, Germana Nardini, Daniele De Brasi","doi":"10.53141/qacp.2022.128-132","DOIUrl":"https://doi.org/10.53141/qacp.2022.128-132","url":null,"abstract":"Autoinflammatory diseases (AIDs) are a family of rare medical entities, characterized by sterile systemic inflammatory episodes caused by exaggerated activation of the innate immune system, for which the pathogenic role of autoantibodies, B or T cells is less relevant. During the past 20 years, a growing number of monogenic inflammatory diseases have been described and their respective responsible genes identified. Proteins encoded by these genes are involved in the regulatory pathways of inflammation and they are mostly expressed in cells of the innate immune system. Since symptoms can overlap within this rapidly expanding disease category, accurate genetic diagnosis is extremely important to start early targeted treatment and to prevent clinically significant or life-threatening complications. On the other hand, detection of more and more genetic variants makes interpretation of results more complicated, and often a genetic diagnosis is not achieved. Thus, the clinical picture represents the starting point for establishing an effective therapy when genetic data are not sufficient or inconclusive. Biologic agents blocking cytokines action have proved to be dramatically effective in a lot of patients.","PeriodicalId":39791,"journal":{"name":"Quaderni ACP","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70771858","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.53141/qacp.2022.170-173
A. Pepe, Angelo Colucci, Lucia Nazzaro
DRESS syndrome (Drug Reaction with Eosinophilia and Systemic Symptoms) is a complex and potentially life-threatening drug induced hypersensitivity reaction. It is characterized by a massive skin reaction associated with multiorgan involvement, lymphadenopathy, eosinophilia. Here we describe a case of DRESS syndrome with acute liver failure in an 11-year-old boy triggered by Valproic Acid. We emphasize the importance of differential diagnosis on the basis of clinical, anamnestic and laboratory data.
{"title":"La complessità della diagnosi di una sindrome da reazione a farmaco nel bambino","authors":"A. Pepe, Angelo Colucci, Lucia Nazzaro","doi":"10.53141/qacp.2022.170-173","DOIUrl":"https://doi.org/10.53141/qacp.2022.170-173","url":null,"abstract":"DRESS syndrome (Drug Reaction with Eosinophilia and Systemic Symptoms) is a complex and potentially life-threatening drug induced hypersensitivity reaction. It is characterized by a massive skin reaction associated with multiorgan involvement, lymphadenopathy, eosinophilia. Here we describe a case of DRESS syndrome with acute liver failure in an 11-year-old boy triggered by Valproic Acid. We emphasize the importance of differential diagnosis on the basis of clinical, anamnestic and laboratory data.","PeriodicalId":39791,"journal":{"name":"Quaderni ACP","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70771908","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"I modulatori della proteina CFTR. Una svolta nella terapia della fibrosi cistica (ma ancora non per tutti)","authors":"A. Clavenna","doi":"10.53141/qacp.2022.263","DOIUrl":"https://doi.org/10.53141/qacp.2022.263","url":null,"abstract":"","PeriodicalId":39791,"journal":{"name":"Quaderni ACP","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70772845","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.53141/qacp.2022.121-127
Giovanna La Fauci, Melodie O. Aricò, Amedeo Bonelli, Elena Cazzato, G. Pagano
Convulsive status epilepticus is a relatively frequent event that requires a quick picture of the situation and an early and appropriate treatment with subsequent levels of intervention. It is important that the pediatrician, as well as the emergency room physician or the resuscitator are well aware of the early stages of crisis management, both at the local and hospital level. The final outcome of the event will depend above all on the timeliness and appropriateness of the decisions taken, without forgetting that, sometimes, status epilepticus can originate from acute events that, if present, must also be identified and treated appropriately.
{"title":"Lo stato di male epilettico in pronto soccorso","authors":"Giovanna La Fauci, Melodie O. Aricò, Amedeo Bonelli, Elena Cazzato, G. Pagano","doi":"10.53141/qacp.2022.121-127","DOIUrl":"https://doi.org/10.53141/qacp.2022.121-127","url":null,"abstract":"Convulsive status epilepticus is a relatively frequent event that requires a quick picture of the situation and an early and appropriate treatment with subsequent levels of intervention. It is important that the pediatrician, as well as the emergency room physician or the resuscitator are well aware of the early stages of crisis management, both at the local and hospital level. The final outcome of the event will depend above all on the timeliness and appropriateness of the decisions taken, without forgetting that, sometimes, status epilepticus can originate from acute events that, if present, must also be identified and treated appropriately.","PeriodicalId":39791,"journal":{"name":"Quaderni ACP","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70770963","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.53141/qacp.2022.234-236
Patrizia Seppia, Giuseppina Di Cosmo
The pediatrician is a privileged observer of child and his family life. How can he support reliable parenting and how can detect Signs of child being unwell in the event of parents’ separations? Considerations on the subject.
{"title":"Il pediatra e i figli e le figlie di genitori che si separano","authors":"Patrizia Seppia, Giuseppina Di Cosmo","doi":"10.53141/qacp.2022.234-236","DOIUrl":"https://doi.org/10.53141/qacp.2022.234-236","url":null,"abstract":"The pediatrician is a privileged observer of child and his family life. How can he support reliable parenting and how can detect Signs of child being unwell in the event of parents’ separations? Considerations on the subject.","PeriodicalId":39791,"journal":{"name":"Quaderni ACP","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70772207","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.53141/qacp.2022.180-185
F. Orlando, Germana Nardini, Daniele De Brasi
Knowledge in the genetic field of autoinflammatory diseases has progressively increased over the last decade. Starting from the genetic knowledge on a few initially known diseases (Familial Mediterranean Fever, Periodic Syndrome Associated with Tumor Necrosis Factor Receptor 1, Mevalonate Kinase Deficiency, Cryopyrinopathies), at least 40 genes associated with these conditions have been identified, and more than 100 genes are currently being tested with Next Generation Sequencing (NGS) technologies. Indeed, starting recommendations for the genetic diagnosis of autoinflammatory diseases were limited to a gene-by-gene diagnosis strategy, based on the Sanger method, and restricted to a few prototypic recurrent fevers. More recently, improvement of genetic technologies, in particular NGS, allowed identification of genetic variants among involved genes in an easier and more rapid way. Detection of more and more genetic variants made interpretation of results more complicated, and often a genetic diagnosis is not achieved. On the other hand, other mechanisms, namely somatic mosaicisms, epigenetic modifications, digenic inheritance, allow to explain some not genetically defined cases. Eventually, further genetic and non-genetic mechanisms will be probably identified in near future to explain underlying basis of autoinflammatory diseases, especially in a still large part of patients without a clearcut genetic basis.
{"title":"L’esofagite eosinofila: quando deglutire diventa difficile","authors":"F. Orlando, Germana Nardini, Daniele De Brasi","doi":"10.53141/qacp.2022.180-185","DOIUrl":"https://doi.org/10.53141/qacp.2022.180-185","url":null,"abstract":"Knowledge in the genetic field of autoinflammatory diseases has progressively increased over the last decade. Starting from the genetic knowledge on a few initially known diseases (Familial Mediterranean Fever, Periodic Syndrome Associated with Tumor Necrosis Factor Receptor 1, Mevalonate Kinase Deficiency, Cryopyrinopathies), at least 40 genes associated with these conditions have been identified, and more than 100 genes are currently being tested with Next Generation Sequencing (NGS) technologies. Indeed, starting recommendations for the genetic diagnosis of autoinflammatory diseases were limited to a gene-by-gene diagnosis strategy, based on the Sanger method, and restricted to a few prototypic recurrent fevers. More recently, improvement of genetic technologies, in particular NGS, allowed identification of genetic variants among involved genes in an easier and more rapid way. Detection of more and more genetic variants made interpretation of results more complicated, and often a genetic diagnosis is not achieved. On the other hand, other mechanisms, namely somatic mosaicisms, epigenetic modifications, digenic inheritance, allow to explain some not genetically defined cases. Eventually, further genetic and non-genetic mechanisms will be probably identified in near future to explain underlying basis of autoinflammatory diseases, especially in a still large part of patients without a clearcut genetic basis.","PeriodicalId":39791,"journal":{"name":"Quaderni ACP","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70772258","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.53141/qacp.2022.197-199
Melodie O. Aricò
{"title":"Quando “meno” è abbastanza: la terapia antibiotica breve","authors":"Melodie O. Aricò","doi":"10.53141/qacp.2022.197-199","DOIUrl":"https://doi.org/10.53141/qacp.2022.197-199","url":null,"abstract":"","PeriodicalId":39791,"journal":{"name":"Quaderni ACP","volume":"42 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70772330","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.53141/qacp.2022.274-276
Paola Materassi, Anna Macaluso, Nicola Di Toro
The project aims to develop an experimental approach based on physical exercises, music, and emotional inputs of children during their first three years of life. The joint participation of parents and kids in preparatory exercises of capoeira, aims to emphasize the parents’ role in their children’s development. The exercises can be incorporated into daily activities to learn to play together and increase the synchrony between parents and children. It leads to a stimulation of kids’ minds and neuromotoric structures and enhances the development of emotional regulation. The innovation of this project is the joint involvement of parents and children playing capoeira, by different means: the physical exercises, the music, the dances and the music learning by playing typical instruments.
{"title":"Muoviamoci Insieme con capoeira. Attività per genitori e bambini da 3 a 36 mesi","authors":"Paola Materassi, Anna Macaluso, Nicola Di Toro","doi":"10.53141/qacp.2022.274-276","DOIUrl":"https://doi.org/10.53141/qacp.2022.274-276","url":null,"abstract":"The project aims to develop an experimental approach based on physical exercises, music, and emotional inputs of children during their first three years of life. The joint participation of parents and kids in preparatory exercises of capoeira, aims to emphasize the parents’ role in their children’s development. The exercises can be incorporated into daily activities to learn to play together and increase the synchrony between parents and children. It leads to a stimulation of kids’ minds and neuromotoric structures and enhances the development of emotional regulation. The innovation of this project is the joint involvement of parents and children playing capoeira, by different means: the physical exercises, the music, the dances and the music learning by playing typical instruments.","PeriodicalId":39791,"journal":{"name":"Quaderni ACP","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70772724","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.53141/qacp.2022.222-226
A. Vecchini, Michele Capurso
This article takes into consideration some key points of specific learning disorders, as outlined in the latest Diagnostic and Statistical Manual of Mental Disorders. We then move on to analyze the guidelines over time that have clarified the definition, diagnostic criteria and etiology; the diagnostic investigation procedures and tools; the early signs, the developmental course and prognosis; the epidemiology and comorbidities and the rehabilitation treatment and compensatory interventions. Thus, a fundamental aspect is highlighted, which recurs in all these documents: the concept of early signs through which the pediatrician can intervene and become a determining figure in the context of specific learning disorders. For these reasons, tools and strategies for targeted intervention are suggested in the context of specific learning disorders.
{"title":"I disturbi specifici dell’apprendimento: che ruolo può avere la figura del medico pediatra?","authors":"A. Vecchini, Michele Capurso","doi":"10.53141/qacp.2022.222-226","DOIUrl":"https://doi.org/10.53141/qacp.2022.222-226","url":null,"abstract":"This article takes into consideration some key points of specific learning disorders, as outlined in the latest Diagnostic and Statistical Manual of Mental Disorders. We then move on to analyze the guidelines over time that have clarified the definition, diagnostic criteria and etiology; the diagnostic investigation procedures and tools; the early signs, the developmental course and prognosis; the epidemiology and comorbidities and the rehabilitation treatment and compensatory interventions. Thus, a fundamental aspect is highlighted, which recurs in all these documents: the concept of early signs through which the pediatrician can intervene and become a determining figure in the context of specific learning disorders. For these reasons, tools and strategies for targeted intervention are suggested in the context of specific learning disorders.","PeriodicalId":39791,"journal":{"name":"Quaderni ACP","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70771962","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2022-01-01DOI: 10.53141/qacp.2022.208-210
G. Paviglianiti, Serena Mirea Piacenti, M. Catania, A. Spataro
{"title":"Ingestione di “pila a bottone”: quando l’apparenza inganna","authors":"G. Paviglianiti, Serena Mirea Piacenti, M. Catania, A. Spataro","doi":"10.53141/qacp.2022.208-210","DOIUrl":"https://doi.org/10.53141/qacp.2022.208-210","url":null,"abstract":"","PeriodicalId":39791,"journal":{"name":"Quaderni ACP","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2022-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"70772168","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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