Italian Journal of Pediatrics最新文献

{"title":"DNA copy number variations and craniofacial abnormalities in 1,457 children with neurodevelopmental disorders.","authors":"Dandan Wu, Ran Chen, Jerry Zhang, Wu Yan, Mengyin Chen, Dongqing Xia, Xiaonan Li, Yanyan Dai, Yinhua Chen, Rong Li","doi":"10.1186/s13052-025-01839-6","DOIUrl":"10.1186/s13052-025-01839-6","url":null,"abstract":"<p><strong>Background: </strong>This study aimed to investigate deoxyribonucleic acid (DNA) copy number variations (CNVs) in children with neurodevelopmental disorders and their association with craniofacial abnormalities.</p><p><strong>Methods: </strong>A total of 1,457 children who visited the Child Health Department of our hospital for unexplained Neurodevelopmental disorders (NDDs) between November 2019 and December 2022 were enrolled. Peripheral venous blood samples (2 mL) were collected from the children and their parents for whole-exome sequencing. Positive results were verified through Sanger sequencing for locus and pedigree validation. Simultaneously, a specific sign-scoring scale was created to evaluate characteristics related to the developments of eyes, nose, ears, eyebrows, head, mouth, face, trunk, limbs, and reproductive, urinary, and cardiovascular systems.</p><p><strong>Results: </strong>A total of 536 children (36.78%, 536/1,457) were found to have genetic variations, with 379 (70.71%, 379/536) exhibiting pathogenic monogenic mutations. Furthermore, 157 children (29.29%, 157/536) harbored DNA copy number variants, encompassing microdeletions (68.15%, 107/157) and microduplications (31.85%, 50/157). Regarding the pathogenicity of CNVs, 91 (57.96%, 91/157) were identified as pathogenic, 28 (17.83%, 28/157) as variants of uncertain clinical significance (VOUS), and 38 (24.20%, 38/157) as benign according to the American College of Medical Genetics and Genomics (ACMG).Using a specific sign-scoring scale, the proportion of pathogenic CNVs in children graded 1 point or higher (64%, 58/91) was significantly higher than that of non-pathogenic CNVs (43%, 29/66) (P < 0.05). Furthermore, the proportion of microdeletions in children graded 1 point or higher (60.75%, 65/107) was significantly higher than those carrying microduplications (44%, 22/50) (P < 0.05). The proportion of pathogenic microdeletions in children graded 1 point or higher (73.43%,47/64) was significantly higher than those carrying pathogenic microduplications (40.74%, 11/27) (P < 0.05).</p><p><strong>Conclusion: </strong>The positive rate of whole-exome sequencing for children with combined craniofacial abnormalities and NDDs exceeds the international average in our study cohort. Thus, whole-exome sequencing may be recommended for precise diagnosis of neurogenetic diseases in such cases.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"9"},"PeriodicalIF":3.2,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11756179/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028792","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":"Differential diagnostic value of P wave dispersion and QT interval dispersion between psychogenic pseudosyncope and vasovagal syncope in children and adolescents.","authors":"Zifeng Huang, Yi Xu, Shuo Wang, Ping Liu, Xingfang Zen, Yuwen Wang, Fang Li, Runmei Zou, Cheng Wang","doi":"10.1186/s13052-025-01864-5","DOIUrl":"10.1186/s13052-025-01864-5","url":null,"abstract":"<p><strong>Background: </strong>Both psychogenic pseudosyncope (PPS) and vasovagal syncope (VVS) in children and adolescents are diseases of transient loss of consciousness. It is difficult to distinguish them clinically. This paper will study the differential diagnostic value of P wave dispersion (Pd) and QT interval dispersion (QTd) between PPS and VVS.</p><p><strong>Methods: </strong>The 31 children with PPS and 40 children with VVS from July 2014 to November 2023 were enrolled as the study group. Meanwhile, 30 healthy children who underwent a physical examination at the same hospital were matched to the control group. P wave duration and QT interval in the 12-lead electrocardiogram were measured at the baseline.</p><p><strong>Results: </strong>(1) Comparison between groups: ① The Pd, corrected P wave dispersion (Pcd), QTd, and corrected QT interval dispersion (QTcd) in PPS group were significantly higher than those in control group (P < 0.05). The minimum P wave duration (Pmin) and corrected P wave duration (Pcmin) in PPS group were significantly lower than those in control group (P < 0.05). There were no significant differences in maximum P wave duration (Pmax), corrected maximum P-wave duration (Pcmax), maximum QT interval (QTmax), minimum QT interval (QTmin), corrected maximum QT interval (QTcmax), and corrected minimum QT interval (QTcmin) between PPS group and control group (P > 0.05). ② The Pd, Pcd, QTd, and QTcd in VVS group were significantly higher than those in control group (P < 0.05). The Pmin, Pcmin, and QTcmin in VVS group were significantly lower than those in control group (P < 0.05). There were no significant differences in Pmax, Pcmax, QTmax, QTmin, and QTcmax between VVS group and control group (P > 0.05). ③ The Pmax, Pd, QTmax, QTd, and QTcd in PPS group were significantly lower than those in VVS group (P < 0.05). There were no significant differences in Pmin, Pcmax, Pcmin, Pcd, QTmin, QTcmax, and QTcmin between PPS group and VVS group (P > 0.05). (2) ROC curve: Pmax, Pd, QTmax, QTd, and QTcd had a certain differential diagnostic value between PPS and VVS in children and adolescents (P < 0.05). QTd had the largest area under curve (0.735), with a sensitivity of 85.00% and a specificity of 53.30% at the cut off value of ≥ 28.11 ms for VVS diagnosis.</p><p><strong>Conclusions: </strong>In children and adolescents, electrocardiogram parameters such as Pmax, Pd, QTmax, QTd, and QTcd all possess predictive value in differentiating between PPS and VVS. Among them, QTd has the greatest differential diagnostic value.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"14"},"PeriodicalIF":3.2,"publicationDate":"2025-01-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11755812/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143028802","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":"Changes in infant respiratory pathogens pre-, during, and post-COVID-19 non-pharmacological interventions in Beijing.","authors":"Tongying Han, Yajuan Wang, Di Zhang, Ying Li, Li Zhang, Jin Yan, Chi Li, Shengnan Yang, Litao Guo, Huijuan Yan","doi":"10.1186/s13052-025-01848-5","DOIUrl":"10.1186/s13052-025-01848-5","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;To explore the effect of non-pharmacological interventions (NPIs) on respiratory pathogen profiles among hospitalized infants aged 0-3 months in Beijing during the coronavirus disease 2019 (COVID-19) pandemic.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Respiratory specimens were collected from 1,184 infants aged 0-3 months who were hospitalized for acute respiratory infection at the Children's Hospital affiliated with the Capital Institute of Pediatrics from January 2018 to December 2023. The data were divided into three groups-the pre-epidemic (January 2018 to December 2019), epidemic prevention and control (January 2020 to December 2022), and post-epidemic (January 2023 to December 2023) groups-based on the outbreak of COVID-19 and the implementation and termination of NPIs. The specimens were tested for 14 respiratory pathogens, including influenza virus A (Flu A), influenza virus B, respiratory syncytial virus, parainfluenza virus (PIV), adenovirus (ADV), human metapneumovirus (HMPV), human bocavirus, human rhinovirus (HRV), coronavirus, Chlamydia trachomatis, Chlamydia pneumoniae (C.pn), Mycoplasma pneumoniae, Bordetella pertussis, and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2).&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;A total of 1,184 infants, including 649 males and 535 females, with acute respiratory infections were admitted. The positive detection rate for respiratory pathogens was 51.77% (n = 613). In 2023, the proportion of infants with respiratory infections after the epidemic was 19.4% (319/1646), the positive detection rate of respiratory pathogens was 68.3% (218/319), and the mixed infection detection rate of respiratory pathogens was 16.1% (35/218). Prior to the epidemic, these rates were 11.9% (431/3611), 37.1% (160/431), and 5.0% (8/160), respectively. During the epidemic prevention and control period, these rates significantly increased to 12.4% (434/3486), 54.1% (235/434), and 11.1% (26/235) (P &lt; 0.05), respectively. Post-epidemic, the proportion of newborns testing positive for respiratory pathogens decreased, while the number of infants aged 29-90 days significantly increased. The proportion of admission weight and contact history with respiratory patients increased significantly compared to before and during the epidemic, with statistical significance (P &lt; 0.05). After the epidemic, a total of 13 respiratory pathogens were detected throughout the year. There were statistically significant differences in the detection rates of Flu A, PIV, SARS-CoV-2, HRV, HMPV, ADV, and C.pn before, during, and after implementation of the NPIs during the COVID-19 epidemic (P &lt; 0.05). Post-epidemic, the detection rates of Flu A, PIV, and SARS-CoV-2 were significantly higher than those before and during the epidemic (P &lt; 0.017). The detection rates of HRV, HMPV, and ADV significantly increased after the epidemic compared to those before the epidemic (P &lt; 0.017). Before the epidemic, the positivity rate of respirat","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"8"},"PeriodicalIF":3.2,"publicationDate":"2025-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11752787/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143023471","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":"Identification of novel RIPK4 variants in a Chinese patient with Arthrogryposis Multiplex Congenita (AMC).","authors":"Yi-Lei Lu, Meng-Wei Liu, Jie-Yuan Jin, Ding Pan","doi":"10.1186/s13052-025-01858-3","DOIUrl":"10.1186/s13052-025-01858-3","url":null,"abstract":"<p><strong>Background: </strong>Arthrogryposis multiplex congenita (AMC) is a congenital disorder characterized by multiple joint involvement, primarily affecting limb mobility and leading to various tissue contractures. Variations in the RIPK4 gene may impact connective tissues, thereby resulting in a spectrum of malformations. This study aimed to identify the genetic etiologies of AMC patients and provide genetic testing information for further diagnosis and treatment of AMC.</p><p><strong>Methods: </strong>We recruited a Chinese female patient with hand-related AMC and her family members. Whole-exome sequencing (WES) was employed to determine the genetic etiologies of the patient's disease. The pathogenic mechanisms of the identified variations were analyzed using protein tolerance profiling and modeling.</p><p><strong>Results: </strong>We identified two novel RIPK4 variants (c.1354G > A, p.E452K; c.1558A > T, p.T520S). Pathogenicity studies indicated that the c.1354G > A, p.E452K variant changed the charge from negative to positive and altered the chemical properties from acidic to alkaline, potentially significantly affecting protein function.</p><p><strong>Conclusions: </strong>We reported the discovery of two novel RIPK4 variants (c.1354G > A, p.E452K; c.1558A > T, p.T520S) in a Chinese AMC female patient's family. Our study enhances the genetic repository for AMC and highlights the pathogenicity of RIPK4 variants, underscoring the significance of comprehensive management for genetic-related diseases, particularly the critical roles of prenatal diagnosis and genetic counseling.</p><p><strong>Trial registration: </strong>The research protocol received approval from the Ethics Review Committee of Xiangya Hospital of Central South University in China (approval number: 202103427), registered in March 2021, with all participants providing duly signed informed consent forms.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"6"},"PeriodicalIF":3.2,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11748807/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143005374","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":"A new epidemic wave of Bordetella pertussis in paediatric population: impact and role of co-infections in pertussis disease.","authors":"Rossana Scutari, Giulia Linardos, Stefania Ranno, Mara Pisani, Anna Chiara Vittucci, Luana Coltella, Luna Colagrossi, Velia Chiara Di Maio, Annamaria Sisto, Livia Mancinelli, Simona Landi, Sebastian Cristaldi, Massimiliano Raponi, Paola Bernaschi, Alberto Villani, Cristina Russo, Carlo Federico Perno","doi":"10.1186/s13052-025-01865-4","DOIUrl":"10.1186/s13052-025-01865-4","url":null,"abstract":"<p><strong>Background: </strong>In recent months, Bordetella pertussis has reappeared after maintaining a low rate for many years. Although pertussis is usually characterized by a favorable course, several factors can contribute to the severity of the disease, such as mixed respiratory infections. In this study, we evaluate B.pertussis cases observed in the pediatric population followed at the Bambino Gesù Children's Hospital and analyzed the potential impact of co-infections in relation to disease severity.</p><p><strong>Methods: </strong>From January to May 2024, a total of 1,151 children and adolescents (both inpatients and outpatients) were screened for the presence of respiratory pathogens, including B.pertussis, with clinically relevant respiratory symptoms.</p><p><strong>Results: </strong>Among the 1,151 patients screened, 66 tested positive for B.pertussis. Fourteen patients had respiratory failure, and six of them required intensive care unit (ICU) admission, while 52 had mild infection. 23.3% of patients had B.pertussis alone, while 76.7% had co-infections (including 5 patients admitted to the ICU). A higher co-infection rate was observed in patients with respiratory failure than in those without failure (92.9% vs. 69.0%, p-value:0.041). Rhinovirus, Metapneumovirus and Parainfluenza-virus were the most prevalent in our pediatric population. Co-infections of human bocavirus with B.pertussis were observed exclusively in patients with respiratory failure.</p><p><strong>Conclusions: </strong>Our results highlighted an increase in B.pertussis cases from January to May 2024, reaching a peak of cases in the month of May. This study shows a high rate of B.pertussis co-infection, and a trend toward association between B.pertussis and specific viruses, that might play a role in increasing disease severity.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"7"},"PeriodicalIF":3.2,"publicationDate":"2025-01-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11749163/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143005362","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":"Clinical features of autonomic dysfunction in children with anti-N-methyl-D aspartic receptor encephalitis.","authors":"Dongqing Li, Jing Sun, Guannan Li, Shuo Miao, Jian Yang, Jianzhao Zhang","doi":"10.1186/s13052-025-01857-4","DOIUrl":"10.1186/s13052-025-01857-4","url":null,"abstract":"<p><strong>Background: </strong>Anti-N-methyl-D-aspartic receptor encephalitis (Anti-NMDAR encephalitis) is the most prevalent form of autoimmune encephalitis in pediatric patients. Autonomic dysfunction is a frequent symptom of Anti-NMDAR encephalitis, yet it often goes unnoticed by pediatricians. Studies have indicated that pediatric patients with autonomic dysfunction exhibit a poorer prognosis compared to those without. To date, research on autonomic dysfunction in encephalitis has predominantly focused on adults, with no studies conducted on pediatric populations. This analysis examines the clinical features of pediatric patients with Anti-NMDAR encephalitis complicated by autonomic dysfunction.</p><p><strong>Methods: </strong>We performed a retrospective analysis of patients diagnosed with Anti-NMDAR encephalitis at the Department of Neurology, Children's Hospital affiliated to the Capital Institute of Pediatrics, from June 2017 to June 2023. Patients were categorized based on the presence or absence of autonomic dysfunction during their illness. We summarized and compared the clinical features of children with autonomic dysfunction and analyzed the risk factors for its development in pediatric Anti-NMDAR encephalitis patients.</p><p><strong>Results: </strong>A total of 56 children were included in this study. Twenty-two (39.3%) exhibited autonomic nervous dysfunction. The most prevalent symptom of autonomic dysfunction was cardiovascular autonomic dysfunction(21/22, 95%),with the specific manifestations being sinus tachycardia (8 cases), ventricular premature beats (2 cases), atrioventricular block (2 cases), atrial premature beats (3 cases), and sinus bradycardia (4 cases),hypertension(1 case) and cardiac arrest(1 case). Other symptoms included gland secretion dysfunction (19/22, 86%),ventilate dysfunction(3/22,14%), thermoregulatory dysfunction (3/22,14%), bladder dysfunction(2/22,9%). Compared to the group without autonomic dysfunction, the group with dysfunction showed significantly higher rates of prodrome infection, tumor complications (all ovarian teratoma), consciousness disturbance, elevated cerebrospinal fluid protein, initiation of second-line and long-term immunotherapy, length of hospital stay, and hospitalization costs (P < 0.05).</p><p><strong>Conclusion: </strong>Among pediatric patients with Anti-NMDAR encephalitis, cardiovascular autonomic dysfunction is the most common form of autonomic dysfunction. Those with autonomic dysfunction have a worse prognosis and longer hospital stays. Active initiation of second-line and long-term immunotherapy is recommended.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"5"},"PeriodicalIF":3.2,"publicationDate":"2025-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11742206/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143005368","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":"Immunological pathogenesis and treatment progress of adenovirus pneumonia in children.","authors":"Yaowen Liang, Jie Wei, Jianjun Shen, Zihao Liang, Xiuchang Ma, Yuchen Du, Wenxian Qian, Hui Dong, Ping Huang, Apeng Chen, Changhua Yi","doi":"10.1186/s13052-024-01836-1","DOIUrl":"10.1186/s13052-024-01836-1","url":null,"abstract":"<p><p>Human adenovirus is an infectious agent that causes respiratory infections in adults and children. It has been found that immunocompromised children are highly susceptible to this pathogen, as it can swiftly evolve into severe pneumonia with multiple sequelae. Due to the lack of immunity in children, the body's response mechanisms to innate and acquired immunity are specialized. We first examined the infection classification and clinical characteristics associated with adenovirus in children. Subsequently, we explored the in-depth understanding of the pathogenic mechanism of adenovirus pneumonia in children, focusing on immunological and cellular biological aspects. Adenovirus infection in children can disrupt the balance of the innate immune response, inducing immune cells to secrete an abundance of pro-inflammatory cytokines. This cascade results in a cytokine storm, which triggers an inflammatory response and causes lung tissue damage. As a result, the infection may progress to a severe state, potentially leading to multi-organ failure. Immunocompromised children exhibit impaired immune cell numbers and functions, which affects both the secretion of antibodies to humoral immunity and the immune response of cellular immunity to adenovirus. Lastly, we reviewed the progress in treating adenovirus pneumonia in children. There are many treatments for adenovirus pneumonia in children, which must be personalized based on a thorough assessment to optimize treatment outcomes. Recent advancements in pharmaceutical development have provided new treatment options for children. Immunomodulatory therapy can reduce inflammation in children, while adjuvant therapy can improve respiratory function; however, it can also lead to complications. Further, co-infections increased the complexity of diagnosis and treatment, necessitating dynamic adjustments to treatment regimens. This review could serve as the basis for identifying potential therapeutic approaches to alleviate the symptoms associated with adenovirus infections in children.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"4"},"PeriodicalIF":3.2,"publicationDate":"2025-01-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11715079/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142949007","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":"Nickel-induced labial angioedema in a pediatric patient with orthodontic braces: a case report.","authors":"Fabrizio Leone, Alessandra Gori, Bianca Laura Cinicola, Giorgio Coletti, Elia Pignataro, Capponi Martina, Brindisi Giulia, Caterina Anania, Anna Maria Zicari","doi":"10.1186/s13052-024-01833-4","DOIUrl":"https://doi.org/10.1186/s13052-024-01833-4","url":null,"abstract":"<p><strong>Background: </strong>Angioedema is a condition marked by sudden, intense swelling of the subcutaneous and submucosal tissues, typically associated with hypersensitivity reactions, genetic mutations, or reactions to medications. It can also result from contact with allergens such as nickel, leading to dermatitis.</p><p><strong>Case presentation: </strong>A 12-year-old girl presented at our Pediatric Immunology and Allergology service with recurrent labial angioedema for over a year, linked to the consumption of legumes and tomatoes, and following the use of a metal flute. Despite a nickel-positive patch test and subsequent avoidance of nickel, her symptoms persisted. Further investigations to rule out other causes of angioedema were unproductive. It was later discovered that she had been wearing a nickel-containing orthodontic device applied a year earlier. The removal of this orthodontic device led to a cessation of the angioedema episodes, highlighting nickel as the likely trigger.</p><p><strong>Conclusions: </strong>This case underscores the importance of considering prolonged nickel exposure from dental devices as a potential cause of angioedema. For patients predisposed to nickel hypersensitivity, using nickel-free alternatives such as ceramic for orthodontic appliances is crucial. Additionally, comprehensive allergen screening, including latex testing, should be conducted before the placement of such devices to prevent similar adverse reactions.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"2"},"PeriodicalIF":3.2,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142931653","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":"Diagnosis, treatment, surgical practices and review of the literature in rare coagulation factor deficiencies.","authors":"Hüseyin Avni Solgun","doi":"10.1186/s13052-024-01806-7","DOIUrl":"https://doi.org/10.1186/s13052-024-01806-7","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Rare bleeding disorders (RBDs) include fibrinogen (Factor I), prothrombin (Factor II), Factor V(FV), combined Factor V and Factor VIII, Factor VII, Factor X, Factor XI, Factor XII, and Factor XIII deficiencies. This group accounts for 3-5% of all factor deficiencies. Different symptoms may occur, ranging from mild or moderate bleeding to serious and life-threatening bleeding, which may not be related to the factor level. This study aimed to evaluate the diagnosis, genetics, treatment, prophylaxis features and surgical experiences of patients those are followed up in our clinic and the review of the literature of rare factor deficiency.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Methods: &lt;/strong&gt;Demographic data, number of follow-up visits throughout the study period, clinical symptoms, number and locations of bleeding symptoms of 19 patients diagnosed with RBD (fibrinogen, prothrombin, FV, FVII, FX, FXI or FXIII) who were followed up in our pediatric hematology clinic between year 2023-2024 and complications, inhibitor levels, previous operations, treatment and prophylaxis approaches are recorded in the patient chart and all data had been evaluated retrospectively. In our article, all patients included in this study are mentioned according to the consecutive numbering system as Patient 1(P1) to P19 in Table 2. A comprehensive literature search was performed in PubMed and after primary elections 4 studies are selected from total 23 studies those are most relevant to RBDs in pediatric age as there is only plenty of articles about RBDs. Most of the other studies are reviews without clinical patient trails just including recommadations for diagnosis and laboratuary screenings. In contrast, our study includes a clinical trail on diagnosis, treatment and prophylaxis information of 19 patients with RBDs.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Results: &lt;/strong&gt;The average age of total 19 patients was 11.2 years (range 2,5-17 years). 14 patients were boys (74%) and 5 patients were girls (26%). 10 of the patients (52%) had FVII deficiency (mean FVII: 8,3%, range 2,5-17%), 4 of patients (21%) had FX deficiency (mean FX:16,2%, range 15-17%) and 4 of patients (21%) had FV deficiency (mean FV:14%, range 10-17%) and 1 had FXIII deficiency (1%) respectively. The normal range laboratory reference values for rare blood factor levels in our institute (factor V, VII and X deficencies) is 70-120%. In our study group, 63% (12/19) of our patients were diagnosed over one year of age. Considering all of our cases, skin and soft tissue bleedings are listed as 52% (10/19), intraoral bleedings as 42% (8/19), nose bleedings as 63% (12/19), joint bleedings as 42%(8/19) and santral nerveous system(CNS) bleedings as 15%(3/19). Among the serious bleedings of our cases, joint bleeding 42% (8/19) takes the first place with followed by CNS bleeding 15% (3/19) and gastro-intestinal system(GIS) bleeding (15%) (3/19) respectively. Among totally 19 patients, FX deficiency-P17 had a null mutation of FX gen","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"3"},"PeriodicalIF":3.2,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142931642","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":"Clinical predictors for surfactant retreatment in preterm infants with respiratory distress syndrome: the results of a pooled analysis.","authors":"Carlo Dani, Chiara Poggi, Massimo Agosti, Massimo Bellettato, Pasqua Betta, Paolo Biban, Luigi Corvaglia, Raffaele Falsaperla, Carlo Forcellini, Diego Gazzolo, Eloisa Gitto, Camilla Gizzi, Paola Lago, Gianluca Lista, Gianfranco Maffei, Fabio Mosca, Marcello Napolitano, Gianfranco Scarpelli, Fabrizio Sandri, Daniele Trevisanuto, Giovanni Vento, Iuri Corsini, Simone Pratesi, Luca Boni","doi":"10.1186/s13052-024-01828-1","DOIUrl":"https://doi.org/10.1186/s13052-024-01828-1","url":null,"abstract":"<p><strong>Background: </strong>The issue of retreatment with surfactant of infants with respiratory distress syndrome (RDS) has been poorly investigated. Our aim was to identify possible clinical predictors of the need for multiple doses of surfactant in a large cohort of very preterm infants.</p><p><strong>Methods: </strong>Data were analyzed from three previous studies on infants born between 25^+ 0 and 31^+ 6 weeks of gestation with RDS who were treated with surfactant.</p><p><strong>Results: </strong>We studied 448 infants. Among them 306 (68%) were treated with a single dose of surfactant and 142 (32%) were treated with multiple doses. Multivariable mixed effects logistic regression analysis showed that the odd of requiring multiple doses of surfactant was significantly lower in patients with higher gestational age (27-28 vs. 25-26 wks: OR 0.46, 95% C.l. 0.26-0.79; ≥29 vs. 25-26 wks: OR 0.34, 95% C.l. 0.13-0.85; overall P = 0.013), while it increased in infants born to mothers with hypertensive disorders of pregnancy (OR 2.53, 95% C.l. 1.49-4.31; P < 0.001) and with hemodynamically significant PDA (OR 2.74, 95% C.l. 1.66-4.53, P < 0.001).</p><p><strong>Conclusions: </strong>Gestational age, hypertension in pregnancy, and hemodynamically significant PDA can predict the need for multiple doses of surfactant. Further investigation is needed to evaluate if these sub-groups of preterm infants represent specific phenotypes of RDS who deserve a peculiar surfactant treatment.</p>","PeriodicalId":14511,"journal":{"name":"Italian Journal of Pediatrics","volume":"51 1","pages":"1"},"PeriodicalIF":3.2,"publicationDate":"2025-01-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142931637","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}