European Journal of Pediatrics最新文献

{"title":"The association between abdominal ultrasound findings and clinical severity in MIS-C children with extracardiac symptoms.","authors":"Yunus Yasar, Mehmet Coskun, Elif Yasar, Ela Cem, Miray Celebi-Yilmaz, Sahika Sahinkaya, Ozlem Sarac-Sandal, Hasan Agin","doi":"10.1007/s00431-024-05950-4","DOIUrl":"https://doi.org/10.1007/s00431-024-05950-4","url":null,"abstract":"<p><p>This study aimed to evaluate pathological findings on abdominal ultrasonography upon admission of children diagnosed with Multisystem Inflammatory Syndrome in Children (MIS-C) that were associated with a more severe disease course and the need for intensive care unit (ICU) admission. This retrospective and observational study was conducted between March 2020 and May 2022. Abdominal ultrasonography findings were evaluated in children diagnosed with MIS-C associated with SARS-CoV-2. Ultrasound examinations were conducted within the first 24 h following hospital admission. Clinical severity was categorized as mild-moderate or severe based on the highest clinical severity score observed at any point during hospitalization, using the criteria of dehydration, oxygen or inotropic requirements, cardiac involvement, and respiratory support. The indications of ICU admission were decreased ejection fraction, pulmonary involvement, and any signs of shock. We compared the presence of any individual ultrasonography findings with clinical severity and the need for ICU admission. Multivariable logistic regression analysis was performed to identify independent sonographic predictors of clinical severity and ICU admission. A total of 70 children were included in the study, 16 of whom (23%) were categorized as having severe diseases. ICU admission was required for 14 children (20%), 13 of whom had severe disease. Notably, three children with severe clinical scores did not require ICU admission. The most common ultrasonography findings were intra-abdominal free fluid (41%), hepatomegaly (36%), splenomegaly (33%), mesenteric inflammation (21%) and mesenteric lymphadenopathy (%19). Intra-abdominal free fluid (p < 0.001; OR = 18.20; 95% CI, 3.69-89.86), mesenteric inflammation (p < 0.001; OR = 10.29; 95% CI, 2.80-37.83), mesenteric lymphadenopathy (p = 0.007; OR = 6.22; 95% CI; 1.69-22.88), and hepatosplenomegaly (p = 0.039; OR = 3.89; 95% CI, 1.15-13.17) were substantially associated with severe clinical outcomes. Intra-abdominal free fluid (p < 0.001; OR = 13.76; 95% CI, 2.77-68.29) and hepatosplenomegaly (p = 0.002; OR = 8.00; 95% CI, 2.19-29.25) were significantly more common in children who required ICU admission. Multivariable logistic regression analysis revealed that intra-abdominal free fluid was an independent predictor of severe disease (p = 0.026; OR = 7.41; 95% CI, 1.28-43.00) and ICU admission (p = 0.007; OR = 9.80; 95% CI, 1.88-51.04).</p><p><strong>Conclusion: </strong>Abdominal ultrasonography findings may indicate clinical severity in children with MIS-C. Intra-abdominal free fluid strongly correlates with severe clinical outcomes and the need for intensive care.</p><p><strong>What is known: </strong>• Abdominal ultrasonography findings in children with MIS-C are non-specific and include intra-abdominal free fluid, mesenteric lymphadenopathy, and hepatosplenomegaly. • MIS-C is associated with significant systemic inflammation and can present wit","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"117"},"PeriodicalIF":3.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142931054","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":"Investigation of serum C-type natriuretic peptide concentration at diagnosis and remission in pediatric osteosarcomas.","authors":"Sonay İncesoy Özdemir, Gülben Akcan, Ahmet Çevik Tufan, Arzu Yazal Erdem, Selma Çakmakcı, Derya Özyörük, Neriman Sarı, Naciye Lale Şatıroğlu Tufan, İnci Ergürhan İlhan","doi":"10.1007/s00431-024-05949-x","DOIUrl":"https://doi.org/10.1007/s00431-024-05949-x","url":null,"abstract":"<p><p>Osteosarcoma (OS) bone tumor of childhood although the etiology of OS has not been fully elucidated, there is evidence linking it with factors related to pubertal development. In recent years, plasma CNP concentration and height velocity in children and CNP have been implicated as an emerging new growth marker during childhood. We aimed to determine the serum NT-proCNP levels of patients with pediatric osteosarcoma and its relation with clinical-laboratory growth parameters and look for any correlation of serum NT-proCNP levels with different prognostic factors in childhood osteosarcoma. This study enrolled 15 newly diagnosed OS patients and 31 healthy controls. All subjects were physically examined. Plasma NT-proCNP concentration was measured by enzyme-linked immunosorbent assay. Our results demonstrated that serum NT-proCNP concentration was significantly different between OS patients and control groups. At diagnosis, the OS patient's mean blood NT-proCNP concentration was 49.7 ± 3.3 pmol/l, which was substantially lower than the control group's concentration of 61.4 ± 3.10 pmol/l (p < 0.005). No significant correlation was found between serum NT-proCNP concentration and growth parameters.</p><p><strong>Conclusion: </strong>In conclusion, we found that the serum NT-proCNP concentration was significantly different between OS patients and control groups. It is predicted that our results will contribute to osteosarcoma biology.</p><p><strong>What is known: </strong>• Osteosarcoma (OS) is the most common malignant bone tumor of childhood, affecting rapidly growing bones with factors associated with rapid bone growth, although its etiology is not fully understood. • The current literature suggests that the main role of the CNP/NPR-B signaling pathway is associated with endochondral bone development and related growth in long bones.</p><p><strong>What is new: </strong>• We demonstrated that serum NT-proCNP concentration was significantly different between OS patients and control groups and could be used as a potential biomarker. • To our knowledge, this is the first clinical study evaluating the relation of serum serum NT-proCNP levels with anthropometric parameters in osteosarcoma patient with a particular interest to identify the possible role of CNP in pediatric osteosarcoma and its relationship with prognostic factors.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"116"},"PeriodicalIF":3.0,"publicationDate":"2025-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142931048","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":"Respiratory support strategies in neonatal transport in the UK and Ireland.","authors":"Allan Jenkinson, Theodore Dassios, Nandiran Ratnavel, Anne Greenough","doi":"10.1007/s00431-024-05947-z","DOIUrl":"10.1007/s00431-024-05947-z","url":null,"abstract":"<p><p>Infants requiring interhospital transfer for a higher level of care in the neonatal period are at increased risk of adverse outcomes. Optimising respiratory management is an important priority. The aim of this survey was to investigate current respiratory support strategies in neonatal transport and identify opportunities for the optimisation of clinical care and future research. A survey of all 18 transport groups in Ireland and the UK was performed. A 10-item structured questionnaire was administered through consultant neonatologists or lead nurses from each transport group between May and June 2024. There was a 100% response rate. There was variation in the types of neonatal ventilator used, and they differed from those on NICUs. A variety of invasive strategies were used, but volume-targeted ventilation was the most common, although different ventilators can deliver different volumes despite apparently the same settings. Non-invasive strategies were used by all, with humidified high flow nasal cannula (HHFNC) being the most common. Continuous carbon dioxide (CO₂) monitoring was used by most teams (94%): endotracheal CO₂ assessments by 94% and transcutaneous monitoring by 70%. Only two teams employed closed loop automated oxygen control (CLAC).</p><p><strong>Conclusion: </strong>There is heterogeneity in the ventilators and respiratory strategies used by transport groups. Future research opportunities should include the comparison of those strategies on short- and long-term outcomes, as well as whether continuous CO₂ monitoring and CLAC have important benefits.</p><p><strong>What is known: </strong>• Nearly one quarter of neonatal transfers in the UK and Ireland are in infants mechanically ventilated. • Optimising respiratory support strategies and reporting respiratory outcomes are research priorities in neonatal transport.</p><p><strong>What is new: </strong>• Volume targeted ventilation is the most common respiratory support strategy used in neonatal transport groups in the UK and Ireland, with a heterogeneity of ventilators in use in neonatal transport versus in NICUs. • There is a paucity of data reporting respiratory outcomes following neonatal transport including outcomes related to mode of ventilation, continuous carbon dioxide monitoring and closed loop automated oxygen control.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"115"},"PeriodicalIF":3.0,"publicationDate":"2025-01-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11698778/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142926747","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":"Therapeutic hypothermia in preterm infants under 36 weeks: Case series on outcomes and brain MRI findings.","authors":"Paola Roca-LLabrés, Melissa Fontalvo-Acosta, Victoria Aldecoa-Bilbao, Ana Alarcón","doi":"10.1007/s00431-024-05948-y","DOIUrl":"https://doi.org/10.1007/s00431-024-05948-y","url":null,"abstract":"<p><strong>Purpose: </strong>Perinatal hypoxic-ischemic encephalopathy (HIE) is a significant cause of neonatal brain injury. Therapeutic hypothermia (TH) is the standard treatment for term neonates, but its safety and efficacy in neonates < 36 weeks gestational age (GA) remains unclear. This case series aimed to evaluate the outcomes of preterm infants with HIE treated with TH.</p><p><strong>Methods: </strong>Retrospective analysis of preterm infants (< 36w GA) treated with TH (01/2019-06/2024). Data on demographics, clinical complications, coagulation profiles, brain magnetic resonance imaging (MRI), and neurodevelopment outcomes were analyzed.</p><p><strong>Results: </strong>Seventeen patients were included (range 32.5-35.5w, median 34.4; birthweight range 1556-2493 g, median 2300 g), 58.8% were male. Placental abruption was identified in 7 cases (41.2%), and 8 (47.1%) required advanced resuscitation. Thirteen patients (76.5%) presented anemia, 12 (70.6%) coagulopathy, 9 (52.9%) thrombocytopenia, and 9 (52.9%) acute liver failure. Hypofibrinogenemia (< 1 g/L) was significantly associated with severe intracranial hemorrhage (ICH), defined as extracerebral, intraventricular or parenchymal hemorrhage causing mass effect. MRI findings were classified based on the predominant lesion: I- hypoxic-ischemic injury, II- severe ICH, or III- normal/mild findings. Severe ICH was the predominant lesion in 4 cases (23.5%). White matter injury was seen in 12 (76%). Death occurred in 8 cases (47.1%). Of the 9 surviving patients, at 2 years, 6 (66.7%) had normal neurodevelopment, while 1 (11.1%) had severe disability.</p><p><strong>Conclusion: </strong>Coagulation abnormalities, particularly hypofibrinogenemia, significantly increase the risk of severe ICH in < 36w infants treated with TH. The safety and efficacy of TH in this population require further investigation.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"113"},"PeriodicalIF":3.0,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914046","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":"Trends and epidemiology of children treated in specialized burn centers in the Netherlands between 2009 and 2022.","authors":"F M Kemme, E L van den Berg, A Meij-de Vries, R K Gigengack, M D Cuijpers, M E van Baar, M K Nieuwenhuis, P P M van Zuijlen, C H van der Vlies, E Bosma, A Pijpe","doi":"10.1007/s00431-024-05923-7","DOIUrl":"https://doi.org/10.1007/s00431-024-05923-7","url":null,"abstract":"<p><p>Knowledge about trends and epidemiology of pediatric burns is useful to identify patterns, to advance medical research, and to design prevention programs and resource allocation. The aim of this study is to describe the epidemiology and trends of pediatric burns between 2009 and 2022 in the three Dutch burn centers. A secondary objective of this study is to evaluate the influence of the COVID-19 pandemic on the pattern of pediatric burns. A register-based cohort study was conducted based on data from the Dutch Burn Repository R3. Patients between 0 and 17 years at the time of the burn injury admitted between 2009 and 2022 to one of the three burn centers were included. Descriptive statistics were used to investigate the incidence and patient, burn, and treatment characteristics. The COVID-19 pandemic years (2020-2021) were compared with the pooled results from pre-COVID-19 years (2017-2019). A total of 4017 patients were included in this study, of which 3085 (77%) were overnight admissions. The incidence and absolute number of pediatric burn admissions gradually increased over the years, with a small temporary decrease in 2020-2021. Patient and burn characteristics remained relatively consistent over the years. Three quarters of all patients were between 0 and 3 years old, and the majority were boys (59%). A decreasing ratio of length of stay per % total burned surface area and an increase in day admissions was observed since 2016 onwards, which intensified during the COVID-19 pandemic.</p><p><strong>Conclusions: </strong>There was a slight increase in the number of pediatric admissions to the burn centers between 2009 and 2022. Young children (0-3 years) remain the most frequently affected group. A shorter relative length of stay was observed, as well as an increase in day admissions, which was reinforced by the COVID-19 pandemic.</p><p><strong>What is known: </strong>• Burns are a leading cause of death and disability among children globally. The largest group affected are young children (0-3 years) and most are scald burns. • In the Netherlands, since the late nineties there has been a trend towards more admissions to specialized burn centers, especially for young children with less severe burns.</p><p><strong>What is new: </strong>• There was a slight increase in the number of pediatric admissions to the burn centers between 2009 and 2022, with a temporary decrease during the COVID-19 pandemic (2020-2021). • Admissions now tend to be shorter per percentage total burned surface area (TBSA), with an increase in day admissions, which intensified during the COVID-19 years.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"114"},"PeriodicalIF":3.0,"publicationDate":"2025-01-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142914047","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":"The role of light exposure in infant circadian rhythm establishment: A scoping review perspective.","authors":"Ee Yin Kok, Satvinder Kaur, Nurul Husna Mohd Shukri, Nurliyana Abdul Razak, Masaki Takahashi, Swee Chai Teoh, Janice Ee Fang Tay, Shigenobu Shibata","doi":"10.1007/s00431-024-05951-3","DOIUrl":"10.1007/s00431-024-05951-3","url":null,"abstract":"<p><p>Environmental light exposure plays a role in the entrainment of the infant circadian rhythm, which is crucial for growth and development. This scoping review aims to evaluate existing literature linking the role of light exposure in the development of the infant circadian rhythm. This scoping review is conducted in accordance with the PRISMA-ScR guidelines. The search strategy was conducted in a total of six databases (PubMed, Cochrane Database of Systematic Reviews, Science Direct, Google Scholar, Taylor and Francis, and Wiley) as of August 2024. Reviews, narrative studies, observational studies, and experimental studies published from 2012 to 2024 were extracted. These studies discussed the role of light exposure on the development of infant circadian rhythm. A total of 25 studies were retrieved (3 observational studies, 6 experimental studies, and 16 reviews). Evidence showed that cycled lighting is beneficial for the entrainment of the infant circadian rhythm according to the 24-h light-dark cycle. Cycled lighting improved nighttime sleep and daytime wakefulness, promoting optimum growth and development. Limited experimental studies were conducted due to the ethical considerations of infants as study participants. Conclusions: Given the benefits of cycled lighting in the development of the circadian rhythm development, it should be implemented in both healthcare and home settings to promote optimum growth and development of the infant.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"112"},"PeriodicalIF":3.0,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11685245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909492","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 impact of exposure to phthalates in thyroid function of children and adolescents: a systematic review.","authors":"Arminda Maia, Maria Augusta Vieira-Coelho","doi":"10.1007/s00431-024-05939-z","DOIUrl":"https://doi.org/10.1007/s00431-024-05939-z","url":null,"abstract":"<p><p>Phthalic acid esters, or phthalates, are plasticizers commonly used in the plastics industry and they are known for their endocrine-disrupting effects. Numerous epidemiological studies have been conducted to evaluate the effects of phthalate exposure on thyroid function, both in adults and children. However, there is still considerable debate surrounding this issue. Therefore, a systematic review was conducted to clarify existing evidence and offer new insights into the magnitude of this disruption and its potential consequences for children and adolescents' health. A comprehensive literature search using MEDLINE, Scopus, and Web of Science databases was performed. The inclusion criteria for the studies were the determination of regression coefficients between phthalates concentrations and thyroid levels, in children and adolescents. The quality assessment of the included studies was performed using the Newcastle Ottawa Scale for longitudinal studies and the Critical Appraisal Checklist for Analytical Cross-Sectional Studies scale for cross-sectional studies. Seventeen studies were included in this review, involving a total of 5616 participants, with similar phthalate levels across the diverse studies. Significant positive correlations between T3 (total and free) levels and phthalate exposure were found, as well as persistent negative associations between total-T4 levels and phthalate exposure. On the contrary, associations found regarding TSH and free-T4 did not show a consistent pattern. Conclusion: This review gathered enough evidence to conclude that exposure to phthalates causes an increase in T3 (total and free) levels and a decrease in total-T4 levels, which is consistent with previous animal studies. These findings highlight the importance of minimizing contact with plasticizers and microplastics in the environment, guaranteeing the safety of food products for the health of children and adolescents.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"111"},"PeriodicalIF":3.0,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909439","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":"Ethical issues in fetal therapies of life-threatening malformations.","authors":"Alexandra Benachi, Alexandre J Vivanti","doi":"10.1007/s00431-024-05922-8","DOIUrl":"https://doi.org/10.1007/s00431-024-05922-8","url":null,"abstract":"<p><p>Unlike any other medical field, fetal medicine addresses two patients: the fetus and the mother. Its primary goal is to improve neonatal outcomes, specifically by reducing mortality and morbidity, including long-term impacts, while minimizing risks to the mother. The aim of fetal interventions for life-threatening malformations is to decrease morbidity and mortality by mitigating the impact of the malformation on fetal growth and development. Although some randomized controlled trials have evaluated fetal medicine procedures, they have faced challenges such as the rarity of most conditions and ethical concerns related to clinical equipoise. Prematurity, an intrinsic risk of membrane puncture, remains a significant burden of fetal surgery, and maternal safety must always be prioritized when considering such procedures. Despite 50 years of research in fetal medicine, many questions remain, due to advancements in ultrasound technology and genetics, the inherent risks associated with fetal procedures, the lack of appropriate medical device for rare diseases and the cost associated with conditions that require complex multidisciplinary neonatal care. Justice and parental autonomy must be respected but the principle of non-maleficence should prevail.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"110"},"PeriodicalIF":3.0,"publicationDate":"2024-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142909433","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 features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants.","authors":"Ceren Yılmaz Uzman, Semra Gürsoy, Behzat Özkan, Gamze Vuran, Durdugül Ayyıldız Emecen, Özge Köprülü, Mertkan Mustafa Bilen, Filiz Hazan","doi":"10.1007/s00431-024-05825-8","DOIUrl":"https://doi.org/10.1007/s00431-024-05825-8","url":null,"abstract":"&lt;p&gt;&lt;p&gt;The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies. The study included 149 patients from 146 unrelated families who were admitted between 2019 and 2023 with a clinical suspicion of RASopathy spectrum disorder. Clinical and laboratory characteristics of the patients at the time of the diagnosis were obtained from hospital records. Variant analysis of twenty-four RASopathy genes was performed using a targeted next-generation sequencing (NGS) panel, and the variants were classified according to American College of Medical Genetics and Genomics Standards and Guidelines recommendations. Pathogenic/likely pathogenic variants were detected in 39 out of 149 patients (26.1%). Thirty-two patients were diagnosed as NS (32/39; 82%). The variants detected in NS patients were PTPN11 (21/32; 65.6%), LZTR1 (3/32; 9.3%), SOS1 (2/32; 6.2%), RAF1 (2/32; 6.2%), RIT1 (2/32; 6.2%), KRAS (1/32; 3.1%), and RRAS (1/32; 3.1%) genes, respectively. The remaining patients were diagnosed with CS (2/39; 5.1%), NF1 (2/39; 5.1%), NF-NS (2/39; 5.1%), and CFC (1/39; 2.5%). We observed rare clinical findings including lymphangioma circumscriptum, Meckel's diverticulum, and omphalocele in three patients with PTPN11 gene variations. Additionally, we detected corpus callosum thickness in a patient with the SOS1 gene variant, which has not been previously described in NS. We also identified three novel variants in RIT1, BRAF, and NF1 genes.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;In this study, we described rare clinical manifestations and detected three novel variants in NF1, BRAF, and RIT1 genes. We propose that NGS technology enables the detection of variants in rare genes responsible for the etiology of RASopathies. The study, therefore, not only contributes to the existing literature but also expands the spectrum of genotype and phenotype of RASopathies.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known: &lt;/strong&gt;• RASopathies are a group of disorders caused by germline variants in genes involved in the Ras/mitogen-activated protein kinase (RAS/MAPK) pathway. • These disorders, including Noonan syndrome (NS), Cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome, and Neurofibromatosis type 1 (NF1), share overlapping clinical features due to RAS/MAPK dysfunction. Molecular diagnosis of RASopathies is crucial for understanding the genetic basis and guiding clinical management, although the phenotype-genotype relationships remain incompletely defined.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is new: &lt;/strong&gt;• This study provides new ","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"108"},"PeriodicalIF":3.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142893183","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 to: Non-restraint in pediatric ankle sprain: a non-inferiority randomized clinical trial.","authors":"Sara Suarez-Cabezas, Begoña Perez-Moneo, Maria Cabrerizo Ortiz, Monica Hortigüela Aparicio, Carmen Gómez Gérez, Elisa M Molanes-López, Ricardo Larrainzar-Garijo, Paula Vazquez Lopez","doi":"10.1007/s00431-024-05932-6","DOIUrl":"10.1007/s00431-024-05932-6","url":null,"abstract":"","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"109"},"PeriodicalIF":3.0,"publicationDate":"2024-12-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11680646/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142893228","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}