PFAPA syndrome (Periodic Fever, Aphthous stomatitis, Pharyngitis and cervical Adenitis) is the most common periodic fever in childhood. It is a benign self-limiting condition that may resolve spontaneously during the first years of life or within adolescence, although there is increasing evidence of cases that may persist also in adulthood. A small dose of corticosteroids is safe and effective for the management of fever episodes and can also be useful for the diagnosis. Tonsillectomy is a good option for those patients who keep presenting with disabling symptoms after the typical age.
{"title":"Sarà veramente PFAPA?","authors":"A. Insalaco, Laura De Nardi","doi":"10.53126/meb42627","DOIUrl":"https://doi.org/10.53126/meb42627","url":null,"abstract":"PFAPA syndrome (Periodic Fever, Aphthous stomatitis, Pharyngitis and cervical Adenitis) is the most common periodic fever in childhood. It is a benign self-limiting condition that may resolve spontaneously during the first years of life or within adolescence, although there is increasing evidence of cases that may persist also in adulthood. A small dose of corticosteroids is safe and effective for the management of fever episodes and can also be useful for the diagnosis. Tonsillectomy is a good option for those patients who keep presenting with disabling symptoms after the typical age.","PeriodicalId":39695,"journal":{"name":"Medico e Bambino","volume":"2 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138947514","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}
The diagnosis of self-induced disorder was eventually made in a 9-year-old girl with malar rash and frequent absences from school.
最终，一名患有睑缘畸形、经常缺课的 9 岁女孩被诊断为自我诱发障碍。
{"title":"Un rash... simaptico","authors":"Simone Coslovich","doi":"10.53126/meb42662","DOIUrl":"https://doi.org/10.53126/meb42662","url":null,"abstract":"The diagnosis of self-induced disorder was eventually made in a 9-year-old girl with malar rash and frequent absences from school.","PeriodicalId":39695,"journal":{"name":"Medico e Bambino","volume":"25 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138947740","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}
Francesca Burlo, Andrea Ballaben, M. Bramuzzo, S. Lega
Anorectal diseases are quite common in children, but their management often raises uncertainty. The most frequent lesions are anal fissures, which are mainly linked to constipation. Intense strain may also lead to rectal prolapse or haemorrhoids. Perianal abscess is common in younger children, while it should arouse suspicion in case of older ones or if it is complex and recurring. Finally, perianal fistula may be a complication of Crohn's disease, which may even precede gastrointestinal symptoms by years.
{"title":"Lesioni perianali","authors":"Francesca Burlo, Andrea Ballaben, M. Bramuzzo, S. Lega","doi":"10.53126/meb42647","DOIUrl":"https://doi.org/10.53126/meb42647","url":null,"abstract":"Anorectal diseases are quite common in children, but their management often raises uncertainty. The most frequent lesions are anal fissures, which are mainly linked to constipation. Intense strain may also lead to rectal prolapse or haemorrhoids. Perianal abscess is common in younger children, while it should arouse suspicion in case of older ones or if it is complex and recurring. Finally, perianal fistula may be a complication of Crohn's disease, which may even precede gastrointestinal symptoms by years.","PeriodicalId":39695,"journal":{"name":"Medico e Bambino","volume":"47 44","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138946619","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}
Bone pain is a common cause of admission to the Paediatric Emergency Department. Although in most cases it is associated with benign processes, this symptom should be investigated thoroughly when anamnestic and clinical features suggest the possible presence of an underlying malignant process. This article describes the case of an adolescent presenting with persistent musculoskeletal pain, initially treated as an infectious bone disease that later turned out to be a malignant neoplasm. Based on clinical, laboratory and imaging data the differential diagnosis of paediatric bone pain can sometimes be challenging and includes nonneoplastic diseases, benign bone tumours and malignant bone tumours. Moreover, this article indicates the medical history data to be investigated, the signs and symptoms to be evaluated and the laboratory and imaging investigations to be performed in a paediatric patient with bone pain. In addition, the epidemiological, clinical and radiographic characteristics of the most frequent causes of paediatric bone pain are summarized in a final table.
{"title":"La diagnosi differenziale del dolore osseo in età pediatrica: quando preoccuparsi","authors":"Roberta Barolo, S. Asaftei","doi":"10.53126/meb42581","DOIUrl":"https://doi.org/10.53126/meb42581","url":null,"abstract":"Bone pain is a common cause of admission to the Paediatric Emergency Department. Although in most cases it is associated with benign processes, this symptom should be investigated thoroughly when anamnestic and clinical features suggest the possible presence of an underlying malignant process. This article describes the case of an adolescent presenting with persistent musculoskeletal pain, initially treated as an infectious bone disease that later turned out to be a malignant neoplasm. Based on clinical, laboratory and imaging data the differential diagnosis of paediatric bone pain can sometimes be challenging and includes nonneoplastic diseases, benign bone tumours and malignant bone tumours. Moreover, this article indicates the medical history data to be investigated, the signs and symptoms to be evaluated and the laboratory and imaging investigations to be performed in a paediatric patient with bone pain. In addition, the epidemiological, clinical and radiographic characteristics of the most frequent causes of paediatric bone pain are summarized in a final table.","PeriodicalId":39695,"journal":{"name":"Medico e Bambino","volume":"C-25 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139272352","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}
Irene Malni, Egidio Candela, Francesco Baldo, Valentina Assirelli, Marta Daniotti, Elena Procopio, Margherita Ruoppolo
Newborn screening is a test performed in the first days of life through which, just with some blood drops, it is possible to identify 49 conditions, including cystic fibrosis, congenital hypothyroidism, and numerous inborn errors of metabolism. The introduction of the newborn screening programme completely changed the natural history of many diseases, as it allowed their precocious diagnosis and a prompt pharmacological or dietary treatment. For example, as to phenylketonuria, before the newborn screening, mental retardation and epilepsy were key elements to suspect this condition; nowadays, a child affected by phenylketonuria is indistinguishable from their healthy peers. After its birth in the early 1990s, newborn screening has undergone a constant series of changes: the number of conditions searched for has increased, the tools to analyze the blood samples have improved and even the facilities and transportation system have developed. At the same time, various critical issues have emerged, namely how to deal with false positive samples, management costs, differences between regional programmes and even ethics (what other conditions should be included or not). This article aims to explain how this complex diagnostic system works, trying to picture the current situation of extended newborn screening in Italy and in the world, paying particular attention to its prospects.
{"title":"Screening neonatale esteso","authors":"Irene Malni, Egidio Candela, Francesco Baldo, Valentina Assirelli, Marta Daniotti, Elena Procopio, Margherita Ruoppolo","doi":"10.53126/meb42563","DOIUrl":"https://doi.org/10.53126/meb42563","url":null,"abstract":"Newborn screening is a test performed in the first days of life through which, just with some blood drops, it is possible to identify 49 conditions, including cystic fibrosis, congenital hypothyroidism, and numerous inborn errors of metabolism. The introduction of the newborn screening programme completely changed the natural history of many diseases, as it allowed their precocious diagnosis and a prompt pharmacological or dietary treatment. For example, as to phenylketonuria, before the newborn screening, mental retardation and epilepsy were key elements to suspect this condition; nowadays, a child affected by phenylketonuria is indistinguishable from their healthy peers. After its birth in the early 1990s, newborn screening has undergone a constant series of changes: the number of conditions searched for has increased, the tools to analyze the blood samples have improved and even the facilities and transportation system have developed. At the same time, various critical issues have emerged, namely how to deal with false positive samples, management costs, differences between regional programmes and even ethics (what other conditions should be included or not). This article aims to explain how this complex diagnostic system works, trying to picture the current situation of extended newborn screening in Italy and in the world, paying particular attention to its prospects.","PeriodicalId":39695,"journal":{"name":"Medico e Bambino","volume":"11 14","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136227606","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}
The case of a 45-day-old infant finally diagnosed with dacryocystitis is presented.
本病例最终确诊一名 45 天大的婴儿患有泪囊炎。
{"title":"Questioni di lacrime","authors":"Elia Balestra, A. Trombetta","doi":"10.53126/meb42599","DOIUrl":"https://doi.org/10.53126/meb42599","url":null,"abstract":"The case of a 45-day-old infant finally diagnosed with dacryocystitis is presented.","PeriodicalId":39695,"journal":{"name":"Medico e Bambino","volume":"52 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139275470","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}
Giulia Capata, S. Lega, M. Bramuzzo, Grazia Di Leo
Dysphagia is a disorder that affects one or more phases of the swallowing process. In paediatric age, it is often difficult to discriminate the underlying cause of this disorder. In this sense, a first distinction between oropharyngeal and oesophageal dysphagia is helpful. This article reviews the main causes of dysphagia through the description of clinical cases and provides indications for diagnostic and therapeutic management.
{"title":"Quando il boccone non va giù: la disfagia in Pediatria attraverso i casi","authors":"Giulia Capata, S. Lega, M. Bramuzzo, Grazia Di Leo","doi":"10.53126/meb42575","DOIUrl":"https://doi.org/10.53126/meb42575","url":null,"abstract":"Dysphagia is a disorder that affects one or more phases of the swallowing process. In paediatric age, it is often difficult to discriminate the underlying cause of this disorder. In this sense, a first distinction between oropharyngeal and oesophageal dysphagia is helpful. This article reviews the main causes of dysphagia through the description of clinical cases and provides indications for diagnostic and therapeutic management.","PeriodicalId":39695,"journal":{"name":"Medico e Bambino","volume":"22 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139273685","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}
Roberto Luciani, Sara Carucci, Annarita Onnis, Federico Marchetti
Disturbo post traumatico, desensibilizzazione e rielaborazione attraverso movimenti oculari (EMDR)
创伤后应激障碍，通过眼球运动脱敏和重加工(EMDR)
{"title":"Lettere","authors":"Roberto Luciani, Sara Carucci, Annarita Onnis, Federico Marchetti","doi":"10.53126/meb42556","DOIUrl":"https://doi.org/10.53126/meb42556","url":null,"abstract":"Disturbo post traumatico, desensibilizzazione e rielaborazione attraverso movimenti oculari (EMDR)","PeriodicalId":39695,"journal":{"name":"Medico e Bambino","volume":"7 9","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136226892","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}
Syndromic immunodeficiencies are defined as a group of immunodeficiencies in which the immunological defect may be found only in a subgroup of patients. They fall within a more complex clinical picture and may not represent the primary clinical problem (i.e. DiGeorge syndrome, ataxia-telangiectasia, CHARGE syndrome, Kabuki syndrome etc.). Along with well-known and recognized syndromic immunodeficiencies, immunological abnormalities have been recently described in genetic syndromes that were not previously considered as inborn errors of immunity. The paper describes the cases of two patients affected by two rare genetic syndromes, namely Jacobsen syndrome and Rubinstein-Taybi syndrome. In the first case, the immunological phenotype of Jacobsen syndrome has been expanded. In the second, the growing body of evidence has pointed out that patients with Rubinstein-Taybi syndrome may present with immunological abnormalities.
{"title":"Sindromi, genetica e immunologia: dall’inizio della fine alla fine dell’inizio","authors":"Fabiola Guerra, Francesco Saettini, Andrea Biondi","doi":"10.53126/meb42569","DOIUrl":"https://doi.org/10.53126/meb42569","url":null,"abstract":"Syndromic immunodeficiencies are defined as a group of immunodeficiencies in which the immunological defect may be found only in a subgroup of patients. They fall within a more complex clinical picture and may not represent the primary clinical problem (i.e. DiGeorge syndrome, ataxia-telangiectasia, CHARGE syndrome, Kabuki syndrome etc.). Along with well-known and recognized syndromic immunodeficiencies, immunological abnormalities have been recently described in genetic syndromes that were not previously considered as inborn errors of immunity. The paper describes the cases of two patients affected by two rare genetic syndromes, namely Jacobsen syndrome and Rubinstein-Taybi syndrome. In the first case, the immunological phenotype of Jacobsen syndrome has been expanded. In the second, the growing body of evidence has pointed out that patients with Rubinstein-Taybi syndrome may present with immunological abnormalities.","PeriodicalId":39695,"journal":{"name":"Medico e Bambino","volume":"2 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136229519","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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