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"Occhi che danzano, gambe che cedono": un caso di sindrome opsoclono-mioclono 跳舞的眼睛，下垂的双腿"：一例肌阵挛-肌阵挛综合征病例
Medico e Bambino pagine elettroniche Pub Date : 2024-01-25 DOI: 10.53126/mebxxviig18
Alice Zucconi, Simona Matarese
{"title":"\"Occhi che danzano, gambe che cedono\": un caso di sindrome opsoclono-mioclono","authors":"Alice Zucconi, Simona Matarese","doi":"10.53126/mebxxviig18","DOIUrl":"https://doi.org/10.53126/mebxxviig18","url":null,"abstract":"The case of a 22-month-old girl presenting with opsoclonus, irritability and tremors of her upper limbs is presented. The diagnosis of thoracic neuroblastoma was finally made.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"24 9","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139597422","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}
引用次数: 0
Sferocitosi: una famiglia... tre malattie 球形红细胞增多症：一个家族......三种疾病
Medico e Bambino pagine elettroniche Pub Date : 2024-01-25 DOI: 10.53126/mebxxviig5
Dante Ferrara, Chiara Giordano, Z. Borsellino, Liana Cuccia, Giovan Battista Ruffo, G. Corsello
{"title":"Sferocitosi: una famiglia... tre malattie","authors":"Dante Ferrara, Chiara Giordano, Z. Borsellino, Liana Cuccia, Giovan Battista Ruffo, G. Corsello","doi":"10.53126/mebxxviig5","DOIUrl":"https://doi.org/10.53126/mebxxviig5","url":null,"abstract":"The paper describes the cases of three siblings affected by Hereditary Spherocytosis (HS). The different clinical presentations in the same family are examples of the heterogeneity of this pathology. HS is a common inherited type of haemolytic anaemia that results from abnormal morphology of erythrocytes. The clinical spectrum of HS ranges from asymptomatic forms characterized by well-compensated chronic haemolysis to severe forms with high transfusion requirement. The typical symptoms triad is anaemia, jaundice and splenomegaly while the most common complication is cholelithiasis. The diagnosis of hereditary spherocytosis in the neonate can be difficult, due to different clinical and laboratory presentations. Neonatal HS ratio, calculated by dividing the MCHC by the MCV, is a rapid and inexpensive screening. Splenectomy helps improve the patient’s quality of life and may be performed after six years of age. RHuEPO therapy should be considered in affected infants with high transfusion requirement.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"53 49","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139598757","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}
引用次数: 0
Un bersaglio quando meno te lo aspetti: la sindrome di Peutz-Jeghers 意想不到的目标：佩茨-杰格综合征
Medico e Bambino pagine elettroniche Pub Date : 2024-01-25 DOI: 10.53126/mebxxviig1
Alessandro Neirotti, Francesca Parola, Sabrina Scarcia, Adalberto Maria Brach Del Prever, L. Rossi
{"title":"Un bersaglio quando meno te lo aspetti: la sindrome di Peutz-Jeghers","authors":"Alessandro Neirotti, Francesca Parola, Sabrina Scarcia, Adalberto Maria Brach Del Prever, L. Rossi","doi":"10.53126/mebxxviig1","DOIUrl":"https://doi.org/10.53126/mebxxviig1","url":null,"abstract":"Peutz-Jeghers Syndrome is a genetic condition that puts affected patients at risk of oncological degeneration and gastrointestinal complications. In most cases, abdominal pain is the acute symptom that leads the patient to the emergency room. This may be due to dangerous medical conditions, such as bleeding polyps and intussusception. The clinical presentation of intussusception might initially be subtle with an intermittent pattern that may be underestimated as the child may alternate intense pain with phases of complete well-being. The paper underlines that intense colic pain associated with emesis must always be included in the differential diagnosis of intestinal intussusception, even if it is a rare pathology in children over 2 years of age. The clinician must conduct a targeted anamnesis to investigate secondary causes in a patient with possible intussusception at a non-typical age.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"8 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139595909","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}
引用次数: 0
Effetti neonatali del fumo di sigaretta in gravidanza: descrizione di un caso clinico 孕期吸烟对新生儿的影响：一个临床病例的描述
Medico e Bambino pagine elettroniche Pub Date : 2024-01-25 DOI: 10.53126/mebxxviig9
A. Marchesini, Lorenzo Tartagni, Monica Santoni, L. Bardeggia, Giacomo Brusa, Elisabetta Tarsi
{"title":"Effetti neonatali del fumo di sigaretta in gravidanza: descrizione di un caso clinico","authors":"A. Marchesini, Lorenzo Tartagni, Monica Santoni, L. Bardeggia, Giacomo Brusa, Elisabetta Tarsi","doi":"10.53126/mebxxviig9","DOIUrl":"https://doi.org/10.53126/mebxxviig9","url":null,"abstract":"The paper describes the case of a second child born by iterative caesarean section at 38 weeks + 5 days after pregnancy complicated by maternal smoking (20 ciga-rettes/day) and gestational diabetes on dietary therapy. At birth, regular adaptation to extrauterine life. Neonatal weight 4,150 g (LGA > 97°pct). On the second day of life, limbs tremors, masticatory clonus and hyperexcitability were observed. After excluding metabolic causes (hypoglycaemia, dyselectrolythemia), sepsis and seizures, in the suspicion of neonatal abstinence syndrome, a urine dosage of the most common substances of abuse, nicotine and its metabolites, was carried out. The high value of Trans-3-OH-Cotinine, the main metabolite of nicotine, together with the negativity for other substances, confirmed the suspicion of nicotine withdrawal syndrome. The newborn was kept under strict parametric monitoring in a low sensory stimulation environment. Hyperexcitability, increased tone, acute crying and tremors continued through the fifth day of life: Finnegan score 9, 8 and 5 respectively on the second, third and fifth day of life. Subsequently, there was a progressive improvement and the patient was discharged on the ninth day of life. Currently, at the paediatric and neuropsychiatric follow-up at the first month of life, the newborn is in regular growth and their neurological examination is normal and age-appropriate. The use of tobacco products during pregnancy is one of the most important modifiable risk factors associated with adverse maternal, foetal and ne-onatal outcomes. In utero tobacco exposure is associated with increased risk of placental abruption, prematurity, low birth weight, foetal malformations, stillbirths and sudden unexpected infant death (SUID). Studies on infants born to mothers who smoke have reported an in-crease in signs of stress such as irritability and hypertonicity compared to those born to mothers who do not smoke.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"59 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139598456","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}
引用次数: 0
Profondo (timpano) rosso 红色鼓膜
Medico e Bambino pagine elettroniche Pub Date : 2024-01-25 DOI: 10.53126/mebxxviig19
Elisabetta Maria Rocco
{"title":"Profondo (timpano) rosso","authors":"Elisabetta Maria Rocco","doi":"10.53126/mebxxviig19","DOIUrl":"https://doi.org/10.53126/mebxxviig19","url":null,"abstract":"The case of a 9-year-old girl presenting with a post-traumatic haemotympanum and vomiting is described. The diagnosis of subdural haematoma was eventually made.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"20 6","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139595940","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}
引用次数: 0
Quando pensare alla sindrome di Noonan 何时考虑努南综合征
Medico e Bambino pagine elettroniche Pub Date : 2024-01-25 DOI: 10.53126/mebxxviig13
Elettra Zuliani
{"title":"Quando pensare alla sindrome di Noonan","authors":"Elettra Zuliani","doi":"10.53126/mebxxviig13","DOIUrl":"https://doi.org/10.53126/mebxxviig13","url":null,"abstract":"Noonan syndrome is a pleomorphic genetic disorder that causes cardiovascular involvement in a high percentage of affected individuals. Care includes attentiveness to several comorbidities, some directly impacting cardiac management (bleeding diatheses and lymphatic anomalies). More than 50% of patients with Noonan syndrome harbour PTPN11 pathogenic variation, which results in hyperactivation of RAS/ mitogen-activated protein kinase signalling. Molecular diagnosis with gene resequencing panels is now widely available, but phenotype variability and, in some cases, subtlety still make Noonan syndrome difficult to be diagnosed. Until genetic testing becomes universal for patients with congenital heart disease, alertness to the broad clinical presentations of Noonan syndrome remains crucial. Genotype-phenotype associations for Noonan syndrome enable better prognostication for affected patients when a molecular diagnosis is established. Noonan syndrome-specific treatment is still lacking; however, newly developed anticancer RAS pathway inhibitors might fill that gap if safety and efficacy can be established for indications such as pulmonary valve stenosis.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"39 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139598183","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}
引用次数: 0
Quando pensare alla splenectomia in presenza di Beta-talassemia con depranocitosi? 出现β-地中海贫血伴去粒细胞增多症时何时考虑脾切除术？
Medico e Bambino pagine elettroniche Pub Date : 2024-01-25 DOI: 10.53126/mebxxviig21
Giacomo Stera, Elena Legnani, A. Grasso
{"title":"Quando pensare alla splenectomia in presenza di Beta-talassemia con depranocitosi?","authors":"Giacomo Stera, Elena Legnani, A. Grasso","doi":"10.53126/mebxxviig21","DOIUrl":"https://doi.org/10.53126/mebxxviig21","url":null,"abstract":"The authors describe the positive effect of splenectomy in two brothers affected by micro-drepanocytosis.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"6 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139597695","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}
引用次数: 0
Infezione e neurite che prendono l'ugola 悬雍垂感染和神经炎
Medico e Bambino pagine elettroniche Pub Date : 2023-12-22 DOI: 10.53126/mebxxvid222
Serena Persia
{"title":"Infezione e neurite che prendono l'ugola","authors":"Serena Persia","doi":"10.53126/mebxxvid222","DOIUrl":"https://doi.org/10.53126/mebxxvid222","url":null,"abstract":"The diagnosis of post-viral mononeuritis of the X cranial nerve was eventually made in a girl presenting with rhinonalia and disphagia.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"19 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138945863","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}
引用次数: 0
Convulsioni e stato di male epilettico: schema sinottico per l'intervento in emergenza/urgenza - Aggiornamento 2023 癫痫发作和癫痫状态：急诊/紧急干预综合图 - 2023 年更新
Medico e Bambino pagine elettroniche Pub Date : 2023-12-22 DOI: 10.53126/mebxxvid214
F. Quarantiello, G. Furcolo
{"title":"Convulsioni e stato di male epilettico: schema sinottico per l'intervento in emergenza/urgenza - Aggiornamento 2023","authors":"F. Quarantiello, G. Furcolo","doi":"10.53126/mebxxvid214","DOIUrl":"https://doi.org/10.53126/mebxxvid214","url":null,"abstract":"The updated revision of the epilepticus status (ES) thera-py poster is addressed to all paediatric emergency work-ers, but not to parents and/or lay people; it does not ad-dress the management of neonatal and nonconvulsive sei-zures. The objective of this poster is to summarize the management and treatment of the child presenting with seizures that can progress to ES.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"10 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138944712","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}
引用次数: 0
Trattare la bronchiolite con nCPAP nelle Pediatrie per “proteggere” le Terapie Intensive pediatriche? 在儿科使用 nCPAP 治疗支气管炎，以 "保护 "儿科重症监护病房？
Medico e Bambino pagine elettroniche Pub Date : 2023-12-22 DOI: 10.53126/mebxxvin201
Melodie O. Aricò, Diana Wrona, Giovanni Lavezzo, M. Stella, E. Valletta
{"title":"Trattare la bronchiolite con nCPAP nelle Pediatrie per “proteggere” le Terapie Intensive pediatriche?","authors":"Melodie O. Aricò, Diana Wrona, Giovanni Lavezzo, M. Stella, E. Valletta","doi":"10.53126/mebxxvin201","DOIUrl":"https://doi.org/10.53126/mebxxvin201","url":null,"abstract":"Respiratory support with oxygen (O2 ) is the recognized mainstay of treatment in acute bronchiolitis. The methods of administration include - in addition to low flow O2 - also heated and humidified high flow O2 (HFNC) and CPAP, according to an increasing stratification of severity and respiratory effort. The transition from HFNC to CPAP requires, in most cases, the transfer of the child to an intensive care unit (PICU). The particular epidemic trend of bronchiolitis in the post-pandemic years and the concrete risk of care overload for PICUs led us to consider the use of nCPAP in the general paediatric ward as an alternative to transfer to intensive care, aiming to reduce the pressure on the PICU and the consequent discomfort and psychological load for children and their families. We describe our preliminary experience - which allowed us to avoid about 80% of transfers to PICU for bronchiolitis - discussing some clinical issues and possible organizational developments.","PeriodicalId":198715,"journal":{"name":"Medico e Bambino pagine elettroniche","volume":"44 22","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-12-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138946591","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}
引用次数: 0
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