Italian Journal of Pediatrics最新文献

{"title":"Inclusivity is child's play: pilot study on usability, acceptability and user experience of a sensory-motor PC game for children with cerebral palsy (GiocAbile).","authors":"Alessandra Consales, Emilia Biffi, Roberta Nossa, Simone Pittaccio, Fabio Lazzari, Matteo Malosio, Matteo Lavit Nicora, Giovanni Tauro, Davide Felice Redaelli, Atul Chaudhary, Eleonora Diella, Matteo Valoriani, Francesca Fedeli, Odoardo Picciolini, Maria Lorella Giannì, Matteo Porro","doi":"10.1186/s13052-024-01830-7","DOIUrl":"https://doi.org/10.1186/s13052-024-01830-7","url":null,"abstract":"<p><strong>Background: </strong>The use of video games in rehabilitation settings is gaining increasing popularity. However, the lack of commercial video games suitable for children with disabilities and the disappointing user experience of serious games limit their applicability. The aim of this study was to assess the usability, acceptability and user experience of GiocAbile, an active video game for children with cerebral palsy (CP).</p><p><strong>Methods: </strong>This multicenter pilot observational study was conducted from May to September 2022 at the participating institutions, and enrolled school-aged children affected by CP. Enrolled children played GiocAbile in single-player mode for one hour. The gaming experience was evaluated through self-assessment questionnaires. Non-parametric correlation analysis was conducted to examine the influence of motor and cognitive abilities (GMFCS, MACS, ICF) on declared usability and acceptability.</p><p><strong>Results: </strong>Nineteen children (9.01 ± 1.95 years, 63.1% male) with mild to severe CP were enrolled. The 100% of respondents expressed satisfaction and fulfillment associated with gameplay, with no reports of frustration or disappointment. The 83% would recommend the game to a friend. The controllers were generally deemed easy to use and maneuver, with very few reports of discomfort associated with their use. No correlations were found between usability/acceptability levels and measures of impairment (i.e., GMFCS, MACS, and ICF scales), while cognitive impairment positively correlated with satisfaction during gameplay.</p><p><strong>Conclusions: </strong>GiocAbile is an accessible, user-friendly and enjoyable tool for children with CP, regardless of level of impairment. Based on existing literature, we hypothesize that GiocAbile may improve motivation, participation, and rehabilitation outcomes in children with CP, although further studies are needed to confirm our hypothesis.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"263"},"PeriodicalIF":3.2,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142872109","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hymenoptera venom allergy in children.","authors":"Mattia Giovannini, Francesca Mori, Simona Barni, Francesca Saretta, Stefania Arasi, Riccardo Castagnoli, Lucia Liotti, Carla Mastrorilli, Luca Pecoraro, Lucia Caminiti, Gunter Johannes Sturm, Gian Luigi Marseglia, Michele Miraglia Del Giudice, Elio Novembre","doi":"10.1186/s13052-024-01731-9","DOIUrl":"https://doi.org/10.1186/s13052-024-01731-9","url":null,"abstract":"<p><p>From a taxonomic point of view, Hymenoptera are subclassified into families: Apidae, including honeybees (Apis mellifera) and bumblebees (Bombus), and Vespidae, which, in turn, are divided into the subfamilies of Vespinae (wasps, including hornets, vespules, dolichovespules) and Polistinae (paper wasp). Hypersensitivity to Hymenoptera venom can be linked to immunological (IgE-mediated or non-IgE-mediated) and non-immunological mechanisms. Reactions are classified into local reactions, large local reactions, systemic reactions, toxic reactions, and unusual reactions. In general, children sensitize less frequently and have less severe reactions than adults, probably due to less exposure to repeated stings and fewer comorbidities. There are risk factors for systemic reactions that should be discussed with patients and their parents as appropriate. A correct diagnosis of Hymenoptera venom allergy relies on a careful clinical history and the appropriate use of skin and in vitro tests. The in vitro tests include serum specific IgE toward venom extracts and toward allergenic molecules. In complex diagnoses, CAP-inhibition and the Basophil Activation Test can also be used. In the presence of a systemic reaction, the basal serum tryptase measurement should be performed to rule out mastocytosis. In case of allergic reactions to Hymenoptera stings, in the acute phase, according to the current guidelines, the treatment of signs and symptoms mainly includes the use of adrenaline as first-line treatment in case of anaphylaxis and antihistamines and corticosteroids as subsequent lines of treatment. Given the impossibility of avoiding a new sting with certainty, the treatment of choice in subjects with hypersensitivity to Hymenoptera venom who have experienced systemic reactions is based on venom immunotherapy (VIT), with the venom of the responsible stinging insect identified after an adequate allergological work-up. VIT is performed in a suitable environment and has proved to be safe and effective with various administration protocols, both accelerated and conventional. The prevention of Hymenoptera venom anaphylaxis in patients who have already developed a previous episode is crucial and must be supported by environmental protection interventions and early therapy. Places where one is more likely to encounter insects and risky behaviors should be avoided.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"262"},"PeriodicalIF":3.2,"publicationDate":"2024-12-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142872108","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Non-prescription antibiotic use and its predictors among children in low- and middle-income countries: a systematic review and meta-analysis.","authors":"Segenet Zewdie, Assefa Andargie Kassa, Ashagrachew Tewabe Yayehrad, Mekonnen Melkie Bizuneh, Wondim Ayenew, Melkamu Zewudie, Selomie Mulat, Bayih Endalew Bitew, Serkalem Zewudie, Birhanu Geta Meharie, Tegenu Chanie Tesfaye, Aregash Abebayehu Zerga, Fanos Yeshanew Ayele, Husein Nurahmed Toleha, Birhanu Demeke Workineh, Ewunetie Mekashaw Bayked","doi":"10.1186/s13052-024-01808-5","DOIUrl":"https://doi.org/10.1186/s13052-024-01808-5","url":null,"abstract":"<p><p>Globally antibiotics are among the most commonly used drugs. Non-prescription use of antibiotics is a major factor for the emergence and spread of antimicrobial resistance one of the top global public health and development threats. This systematic review and meta-analysis aim to assess non-prescription antibiotic use and predictors among children in Low and middle-income countries.A comprehensive search of electronic databases was conducted from PubMed, Scopus and HINARI to identify primary studies published between 2000 and 2024. Observational studies conducted among children ≤ 18 years old and published in English language were included in the review. After screening, the studies were assessed using Joanna Briggs Institute (JBI) critical appraisal tool and data were extracted using a checklist. Heterogeneity was assessed using forest plot, Chocran's Q Test and I². The random effects meta-analysis model was employed to pool the prevalence of non-prescription antibiotic use among children in low-and middle-income countries. Sub-group analysis and meta-regression were performed to identify the sources of heterogeneity. Publication bias was assessed using funnel plots with Egger's test.The review was conducted among 32 cross-sectional studies with a sample size of 80,133 participants. The pooled prevalence of non-prescription antibiotic use among children in low-and middle-income countries was 38.86% (95% CI 34.32, 43.40; P < 0.0001) with high heterogeneity (I² = 99.38%, p < 0.001). The prevalence of non-prescribed antibiotic use among studies conducted in upper middle-income countries (30.85% (24.49%, 37.21%)) was low when compared to studies conducted in LMICs (44.00% (37.72%, 52.09%). Penicillin was the most often antibiotic class used without prescription, while upper respiratory infections were the most prevalent illness/symptoms that prompted non-prescription antibiotic use.The pooled prevalence of non-prescription antibiotic use among children in low-and middle-income countries is high indicating that two out of five children used non-prescribed antibiotics. This review is important for international organizations, ministry of health of the low-and middle- income countries, regulatory bodies and researchers.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"260"},"PeriodicalIF":3.2,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854035","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Parvovirus B19 infection in children: a comprehensive review of clinical manifestations and management.","authors":"Silvia Bloise, Enrico Cocchi, Lorenzo Mambelli, Caterina Radice, Federico Marchetti","doi":"10.1186/s13052-024-01831-6","DOIUrl":"10.1186/s13052-024-01831-6","url":null,"abstract":"<p><p>Parvovirus B19 (B19V) is a significant pathogen responsible for a wide range of clinical manifestations, particularly in children and pregnant women. While B19V is most commonly recognized as the cause of Fifth disease, a mild erythematous illness in children, its clinical impact extends far beyond this condition. B19V can lead to severe complications, including transient aplastic crisis in individuals with chronic hemolytic anemias, arthralgia, and more severe joint diseases. During pregnancy, B19V infection poses serious risks, such as spontaneous abortion, non-immune hydrops fetalis, and fetal anemia, particularly when infection occurs between 9 and 20 weeks of gestation. Moreover, B19V is associated with a variety of organ system involvements, including cardiac, neurological, hepatic, and renal complications. These manifestations can range from mild to life-threatening, necessitating a broad spectrum of therapeutic approaches, including symptomatic care, immunoglobulins, corticosteroids, and supportive therapies. Despite the significant clinical burden posed by B19V, no specific antiviral treatment or vaccine is currently available, making early recognition and prompt management crucial for improving patient outcomes. This review provides a comprehensive overview of the diverse clinical presentations of B19V infection, with a focus on pediatric and pregnancy-related complications. It underscores the need for ongoing research into targeted therapies and highlights the importance of vigilant clinical management to mitigate the severe consequences of this pervasive virus.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"261"},"PeriodicalIF":3.2,"publicationDate":"2024-12-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142854087","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Correction: Erythropoietic protoporphyria: case reports for clinical and therapeutic hints.","authors":"Cristina Tumminelli, Francesca Burlo, Serena Pastore, Giovanni Maria Severini, Irene Berti, Stefano Marchini, Davide Zanon, Eleonora De Martino, Alberto Tommasini","doi":"10.1186/s13052-024-01832-5","DOIUrl":"https://doi.org/10.1186/s13052-024-01832-5","url":null,"abstract":"","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"259"},"PeriodicalIF":3.2,"publicationDate":"2024-12-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142828554","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"A child opportunity index in Italy: a pilot proposal.","authors":"Pietro Ferrara, Domenico Cipolla, Giovanni Corsello, Luca M Lagalla, Matilde Tantillo, Giusyelisa Galione, Chiara Martorana, Teresa Mazzone, Margherita Zona, Ignazio Cammisa","doi":"10.1186/s13052-024-01825-4","DOIUrl":"10.1186/s13052-024-01825-4","url":null,"abstract":"<p><strong>Background: </strong>The Child Opportunity Index (COI) is a new and innovative tool designed to assess the environment in which children grow up, offering a broad evaluation of the opportunities available to them in different neighborhoods. This initiative aims to ensure improvements in children's living conditions and future health outcomes.</p><p><strong>Methods: </strong>The study was performed in the cities of Palermo and Rome. Our Italian COI consists of three main domains: education, health and environment, and economy, each subdivided into specific indicators. We collected information, when available, useful for our indicators from institutional sites and municipal archives. Furthermore, in the city of Rome, we distributed a questionnaire through local pediatricians, collecting data in 2 randomly chosen neighborhoods with questions on children's health and quality of life, proposing an initial approach that, when implemented using data provided by the government and public and private health institutions, aims to evaluate the correlation between socio-economic opportunities and the psycho-physical health of children, as demonstrated in the literature.</p><p><strong>Results: </strong>As a result, many aspects, such as the rate of air pollution or the illegal occupation of houses, were not taken into consideration. We therefore consider our COI proposal only a starting model that will have to be implemented once all the necessary information has been obtained. However, what can be deduced from this first descriptive study is how the opportunities in different neighborhoods are not the same for all children. The number of educational opportunities as well as the number of environmental opportunities differs between the various districts and is not homogeneous between different cities or within the same city.</p><p><strong>Conclusions: </strong>In conclusion, it is not simple to analyze in a scientific manner the child's health impact of living in different areas. The COI could be a useful and simple tool that can give us this information. Pediatricians could collaborate with institutions to implement intervention plans and to reduce existing differences, social and health inequalities. Future studies will have to implement this pilot study to create and validate an Italian model of COI to be used as a useful tool in children's assistance.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"258"},"PeriodicalIF":3.2,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11622542/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142785432","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Cranial ultrasonographic findings in newborns exposed to SARS-CoV-2: a single-centre cross-sectional analysis.","authors":"Bruna Scalia, Marco Andrea Nicola Saporito, Laura Mauceri, Alessandro Valerio Saporito, Grete Francesca Privitera, Martino Ruggieri, Raffaele Falsaperla","doi":"10.1186/s13052-024-01826-3","DOIUrl":"10.1186/s13052-024-01826-3","url":null,"abstract":"<p><strong>Background: </strong>SARS-CoV-2's potential consequences on the developing brain are still unknown. The aim of this study was to describe cranial ultrasonographic (cUS) findings in a population of newborns exposed to SARS-CoV-2 born at San Marco Hospital in Catania.</p><p><strong>Methods: </strong>Two cohort of newborns, one exposed to SARS-CoV-2 both during gestation and at birth and one unexposed, were enrolled in this cross-sectional study conducted according to the STROBE guidelines (Strenghtening the Reporting of Observational Studies in Epidemiology) and underwent cUS. We performed a statistical analysis using the Fisher's exact test to assess whether significant differences among the two groups existed.</p><p><strong>Results: </strong>we enrolled 139 exposed newborns (62 females, 77 males with median gestational age 38.4 ± 1.9 W and median weight at birth 3142.8 ± 594.4 g) and 139 unexposed newborns (60 females, 79 males with median gestational age 38,9 ± 1.3 W and median weight at birth 3230 ± 336 g). cUS abnormalities were found in 32 exposed patients (23%) and in 23 (16.5%) unexposed patients. A statistically significant difference was found in the incidence of minor intracranial abnormalities (p 0.036) between exposed and unexposed patients and between newborns exposed during pregnancy and unexposed patients (p 0.016).</p><p><strong>Conclusions: </strong>in our experience, the incidence of minor intracranial abnormalities was higher in SARS-COV-2-exposed newborns. Our results must be taken with caution and need further confirmation in larger studies but suggest to consider performing cUS at birth in newborns exposed to SARS-CoV-2 in research contexts.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"257"},"PeriodicalIF":3.2,"publicationDate":"2024-12-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11619645/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142778965","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Italian Perinatal Surveillance System SPItOSS: insights from Confidential Enquiries.","authors":"Michele Antonio Salvatore, Silvia Salvi, Paola D'Aloja, Patrizia Vergani, Roberto Bellù, Carlo Dani, Federico Mecacci, Maria Rosa D'Anna, Sergio Ferrazzani, Giuseppe Battagliarin, Piermichele Paolillo, Simonetta Picone, Luca Ramenghi, Giovanni Vento, Serena Donati","doi":"10.1186/s13052-024-01811-w","DOIUrl":"10.1186/s13052-024-01811-w","url":null,"abstract":"<p><strong>Background: </strong>An effective strategy to reduce perinatal mortality requires an active surveillance system. This includes monitoring cases, organizing multidisciplinary local audits, conducting Confidential Enquiries, identifying avoidable factors, and facilitating changes in the healthcare system. In 2017, the Italian Obstetric Surveillance System launched the SPItOSS pilot Perinatal Surveillance System. The aim of this paper is to describe the results of the SPItOSS Confidential Enquiries on perinatal deaths focusing on the emergent critical aspects in obstetric and neonatal care, as well as on the healthcare facilities organization.</p><p><strong>Methods: </strong>SPItOSS, a population-based surveillance system, collected and analysed incident perinatal deaths from July 2017 to June 2019 in three Regions encompassing 32.3% of Italian births. Cases were defined according to WHO definition as fetuses born dead ≥ 28 weeks of gestation and live newborn died within 7 days from birth. The International Statistical Classification of Diseases and related Health Problem-Perinatal Mortality was adopted for coding causes of death and contributing maternal and placenta-related conditions. Confidential Enquiries, prioritized according to perinatal deaths preventability, were conducted by expert committees at Regional and National level.</p><p><strong>Results: </strong>A total of 830 incident perinatal deaths were notified, with 58.3% classified as antepartum, 4.3% as intrapartum, and 37.3% as neonatal deaths. According to the SPItOSS protocol, Confidential Enquiries evaluated only the most preventable deaths, including 19 intrapartum and 70 neonatal deaths. Of these, 43.8% were assessed as unavoidable with appropriate care; 29.2% as unavoidable with improvable care, and 15.7% as avoidable due to inappropriate care. Most intrapartum deaths were attributed to intrauterine hypoxia, while neonatal deaths recognized a multifactorial aetiology. Different aspects of inappropriate care were highlighted, such as failure to recognise maternal or fetal problems before labour, delayed or inappropriate neonatal resuscitation, and poor or suboptimal neonatal monitoring.</p><p><strong>Conclusions: </strong>The SPItOSS Confidential Enquires provided insights for improving maternity and perinatal services. By targeting key areas of obstetric and neonatal care, the surveillance can generate recommendations and actions to prevent avoidable perinatal deaths.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"256"},"PeriodicalIF":3.2,"publicationDate":"2024-12-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11619693/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142779031","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Nocardia farcinica pneumonia complicated by pneumocystis jiroveci infection in children with Neuromyelitis Optica Spectrum Disorders: a case report and literature review.","authors":"LingLing Liu, Yuan Huang, SaiNan Shu, Hua Zhou, Feng Fang, Xinglou Liu","doi":"10.1186/s13052-024-01827-2","DOIUrl":"https://doi.org/10.1186/s13052-024-01827-2","url":null,"abstract":"<p><strong>Background: </strong>Nocardiosis is an opportunistic infection that has a low prevalence rate, its clinical manifestations are atypical and can be easily misdiagnosed as other diseases. The correct diagnosis and treatment are frequently delayed by various factors. In this case report, we present a pediatric patient with Neuromyelitis Optica Spectrum Disorders who developed Nocardia farcinica pneumonia complicated by pneumocystis jiroveci infection.</p><p><strong>Case presentation: </strong>An 8-year-old girl with chest pain and cough was admitted to the hospital. She suffered from Neuromyelitis Optica Spectrum Disorders and had been taking methylprednisolone and tacrolimus orally for 3 years. She was admitted to the hospital for tests and was diagnosed with acute pneumonia. Despite empiric antibiotic treatment, her condition gradually worsened. Respiratory distress developed, and she needed to use a ventilator for breathing. The symptoms she exhibited led us to suspect the presence of a tumor. Etiological tests later confirmed the co-infection of Nocardia farcinica and Pneumocystis jiroveci. After treatment, the child's lung infection eventually resolved.</p><p><strong>Conclusion: </strong>The Nocardia bacteria and Pneumocystis jiroveci are widely distributed in the environment, possess the capability of systemic dissemination, and exhibit significant resistance to specific treatments. Invasive sampling is frequently necessary for confirming their presence. Timely and accurate diagnosis as well as treatment play a crucial role in patient survival.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"255"},"PeriodicalIF":3.2,"publicationDate":"2024-12-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11610104/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142768878","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Intracranial hemorrhage in an infant leads to the diagnosis and treatment of severe hemophilia B: a case report.","authors":"Giuseppe Lassandro, Valentina Palladino, Paola Giordano","doi":"10.1186/s13052-024-01819-2","DOIUrl":"10.1186/s13052-024-01819-2","url":null,"abstract":"<p><strong>Background: </strong>Hemophilia B is a rare bleeding disorder in males, characterized by a deficiency in coagulation factor IX (FIX). Replacement of FIX with a recombinant FIX (rFIX) fusion protein, to sustain therapeutic plasma levels, is recommended as both treatment and prophylaxis to prevent bleeding episodes, particularly intracranial hemorrhage (ICH).</p><p><strong>Case presentation: </strong>This case report outlines the management of ICH in a 7-month-old infant with severe hemophilia B, following an accidental trauma-related event, resulting in a thin compound fracture of the left occiput. FIX levels were extremely low (˂1.0%) and large deletions of the coagulation F9 gene (including exons 1-6) were identified. Intensive treatment with a rFIX fusion protein conjugated to the immunoglobulin Fc fragment (rFIXFc) continued for 18 days before hospital discharge. A continuous regimen of weekly rFIXFc infusions was implemented. Thirty days after initiating rFIXFc therapy, neutralizing antibodies or FIX inhibitors (common in patients with large F9 gene deletions) were observed, causing a diffuse skin rash. Such allergic reactions typically indicate progression to potentially serious nephrotic syndrome. A unique immunotolerance regimen of oral oxatomide and intravenous hydrocortisone was started to proactively prevent allergic reactions in this patient during rFIXFc prophylaxis. Even though low titers of the inhibitor (0.6-1.0 Bethesda units) were observed occasionally during subsequent follow-up, there were no signs of further allergies or development of nephrotic syndrome.</p><p><strong>Conclusion: </strong>This is an uncommon case in which rFIXFc was continued despite the appearance of an allergic reaction and the development of FIX inhibitors. Subsequent allergic reactions were prevented with a combination of oral oxatomide and intravenous hydrocortisone given prior to prophylactic rFIXFc. Further studies are recommended to determine the usefulness of this combination with rFIX therapy.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"50 1","pages":"253"},"PeriodicalIF":3.2,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11603928/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142750809","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}