European Journal of Pediatrics最新文献

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Association between microcephaly and hearing disorders in children exposed or suspected of exposure to the Zika virus during the intrauterine period.
IF 3 3区 医学
European Journal of Pediatrics Pub Date : 2024-12-12 DOI: 10.1007/s00431-024-05920-w
Andrea de Oliveira Campos Amaral, Armanda de Oliveira Pache de Faria, Fabiana Rabe Carvalho, Luis Antonio Bataglin Dalcastel, Simone Saraiva de Abreu Almeida, Alexandre Ribeiro Fernandes, Luis Guillermo Coca Velarde, Solange Artimos de Oliveira, Claudete Aparecida Araújo Cardoso, Maria Elisa Vieira da Cunha Ramos Miterhof, Renata Artimos de Oliveira Vianna
{"title":"Association between microcephaly and hearing disorders in children exposed or suspected of exposure to the Zika virus during the intrauterine period.","authors":"Andrea de Oliveira Campos Amaral, Armanda de Oliveira Pache de Faria, Fabiana Rabe Carvalho, Luis Antonio Bataglin Dalcastel, Simone Saraiva de Abreu Almeida, Alexandre Ribeiro Fernandes, Luis Guillermo Coca Velarde, Solange Artimos de Oliveira, Claudete Aparecida Araújo Cardoso, Maria Elisa Vieira da Cunha Ramos Miterhof, Renata Artimos de Oliveira Vianna","doi":"10.1007/s00431-024-05920-w","DOIUrl":"https://doi.org/10.1007/s00431-024-05920-w","url":null,"abstract":"<p><p>This study aimed to evaluate the association between microcephaly and hearing disorders in children with exposed or suspected exposure to Zika virus (ZIKV) during the intrauterine period. In this cross-sectional study, we enrolled children exposed or suspected of being exposed to ZIKV during intrauterine period, admitted to the hospital between April 2016 and July 2018, and followed up until September 2021. All children underwent at least one automated auditory brainstem response (AABR) test. For analysis, the patients were divided into four groups: those with microcephaly, without microcephaly, suspected ZIKV infection, and controls. Other causes of microcephaly were excluded. Hearing impairment was assessed using the AABR to determine associations with microcephaly or central nervous system (CNS) abnormalities. Of the 134 children included, 34 (25.4%) were diagnosed with congenital Zika syndrome (CZS), of whom 28 (82.4%) had microcephaly, and the remaining six (17.6%) without microcephaly. Among the 28 children with microcephaly, 3 (10.7%) had abnormal AABR. Among CZS children without microcephaly (n = 6), 1 (16.7%) had abnormal AABR (Fisher's exact test p = 0.56).Conclusion: In our study population, that hearing impairment assessed using the AABR test was not associated with microcephaly or severe CNS alterations.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"78"},"PeriodicalIF":3.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812444","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}
引用次数: 0
Translation, adaptation, and psychometric evaluation of the Quality of Life in a Child's Chronic Disease Questionnaire for the Swedish context.
IF 3 3区 医学
European Journal of Pediatrics Pub Date : 2024-12-12 DOI: 10.1007/s00431-024-05888-7
Karin Blomberg, Małgorzata Farnik, Mats Eriksson
{"title":"Translation, adaptation, and psychometric evaluation of the Quality of Life in a Child's Chronic Disease Questionnaire for the Swedish context.","authors":"Karin Blomberg, Małgorzata Farnik, Mats Eriksson","doi":"10.1007/s00431-024-05888-7","DOIUrl":"10.1007/s00431-024-05888-7","url":null,"abstract":"<p><p>The aim of this study was to translate, adapt, and psychometrically evaluate the Quality of Life in a Child's Chronic Disease Questionnaire (QLCCDQ) for the Swedish context. The QLCCDQ was translated into Swedish and adapted to the Swedish context. Data for psychometric testing were obtained through a survey of parents of children and adolescents (n = 627) with chronic diseases: asthma and type 1 diabetes mellitus, with a total of 173 responses (27.6%). Face and content validity of the instrument was assessed, and floor and ceiling effects were measured. Internal consistency was measured with Cronbach's alpha and an exploratory factor analysis (EFA) was conducted. The EFA gave a two-factor solution with an eigenvalue > 1 explaining 73.9% of total variance for the Swedish version. The new subscales are family life and activities (eight questions) and emotions and symptoms (four questions). Three questions concerning anxiety, worry, and guilt loaded < 0.6 and were excluded.</p><p><strong>Conclusion: </strong>The study concludes that the Swedish version of the QLCCDQ is a reliable and valid questionnaire. The instrument may be useful for clinical screening of families who have the greatest need for supportive interventions. However, this should be further evaluated.</p><p><strong>What is known: </strong>• A child's chronic disease influences quality of life of its family members. • Few instruments are designed to measure the impact on families.</p><p><strong>What is new: </strong>• The Swedish version of the Quality of Life in a Child's Chronic Disease Questionnaire has two subscales compared to the original's five. • The instrument may potentially be useful for clinical screening of families who have the greatest need for supportive interventions.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"76"},"PeriodicalIF":3.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11634934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812511","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}
引用次数: 0
Paediatric patient perceptions of healthcare professionals: contributions to a communication curriculum.
IF 3 3区 医学
European Journal of Pediatrics Pub Date : 2024-12-12 DOI: 10.1007/s00431-024-05911-x
Jakob Thestrup, Jette Led Sørensen, Barbara Hoff Esbjørn, Jane Hybschmann, Thomas Leth Frandsen, Patricia DeCosta, Line Klingen Gjærde
{"title":"Paediatric patient perceptions of healthcare professionals: contributions to a communication curriculum.","authors":"Jakob Thestrup, Jette Led Sørensen, Barbara Hoff Esbjørn, Jane Hybschmann, Thomas Leth Frandsen, Patricia DeCosta, Line Klingen Gjærde","doi":"10.1007/s00431-024-05911-x","DOIUrl":"10.1007/s00431-024-05911-x","url":null,"abstract":"<p><p>Communication skills are a vital but often neglected part of paediatric training. To make communication training more responsive to patient needs, children and adolescents should be involved in developing the communication curriculum for healthcare professionals, though this is rarely the case. The present study explored children and adolescents' perceptions of healthcare professionals to identify recommendations for healthcare professionals to contribute to formulating goals, learning objectives, and competencies for an interprofessional paediatric communication curriculum. We used narrative and play-based interviews to include the perceptions of preschool children aged 3-6 years (n = 8) and an online questionnaire to explore those of schoolchildren and adolescents aged 5-18 years (n = 54). We did a thematic analysis of the qualitative interview data and open-ended questionnaire responses, which showed that preschool children found familiar approaches, physical contact, and their parents comforting and that healthcare professionals should use playful methods, child-friendly words, and tangible rewards. Schoolchildren and adolescents preferred healthcare professionals who were friendly, patient, attentive, communicated clearly, and engaged them in conversation. They did not like when healthcare professionals appeared stressed, did not keep their promises, or forced them to do something.</p><p><strong>Conclusions: </strong>We condensed perceptions of children and adolescents into tips and statements to be used in further development of a communication curriculum for paediatric healthcare professionals. Our findings emphasize that paediatric communication training should focus on healthcare professionals' attitude and appearance, strategies for building trust and engaging patients in treatment and care, the use of age-appropriate communication, and understanding the cognitive development of children and adolescents.</p><p><strong>What is known: </strong>• Communication is a core competence that all paediatric healthcare professionals must practice and maintain. • Children and adolescents can contribute to curriculum development, but only few studies have done so.</p><p><strong>What is new: </strong>• The perspectives of children and adolescents indicate that education programmes on paediatric communication should focus on the attitude and appearance of healthcare professionals, strategies to build trust and engage patients, age-appropriate communication, and understanding the cognitive development of children and adolescents. • Children and adolescents aged 3-18 years can contribute to the development of goals, learning objectives, and competencies for paediatric communication training, which may help promote more patient-centred approaches in practice.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"75"},"PeriodicalIF":3.0,"publicationDate":"2024-12-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11634935/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142812466","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}
引用次数: 0
Effects of CYP2C19 and CYP2C9 polymorphisms on the efficacy and plasma concentration of lacosamide in pediatric patients with epilepsy in China.
IF 3 3区 医学
European Journal of Pediatrics Pub Date : 2024-12-10 DOI: 10.1007/s00431-024-05897-6
Ting Zhao, Hong-Jian Li, Hui-Lan Zhang, Jing Yu, Jie Feng, Long Cui, Ke-Fang Sun, Yan Sun, Lu-Hai Yu
{"title":"Effects of CYP2C19 and CYP2C9 polymorphisms on the efficacy and plasma concentration of lacosamide in pediatric patients with epilepsy in China.","authors":"Ting Zhao, Hong-Jian Li, Hui-Lan Zhang, Jing Yu, Jie Feng, Long Cui, Ke-Fang Sun, Yan Sun, Lu-Hai Yu","doi":"10.1007/s00431-024-05897-6","DOIUrl":"10.1007/s00431-024-05897-6","url":null,"abstract":"<p><p>To evaluate the effects of cytochrome P450 family 2 subfamily C member 9 (CYP2C9) and cytochrome P450 family 2 subfamily C member 19 (CYP2C19) polymorphisms on the plasma concentrations, efficacy, and safety of lacosamide (LCM) among pediatric patients with epilepsy. This prospective study was conducted at two institutions. It included 215 pediatric patients with epilepsy who were under LCM. LCM plasma concentrations were quantified using validated ultra-performance liquid chromatography. CYP2C9 and CYP2C19 polymorphisms were analyzed in all pediatric patients in our hospital's Institute of Clinical Pharmacy research laboratory through polymerase chain reaction, agarose gel electrophoresis detection, gel recovery, and other steps. Seizure frequencies were recorded 3, 6, and 12 months after initiating LCM therapy and compared with the baseline monthly frequency. Clinical information, including efficacy, toxicity, and concomitant drugs, was collected. A total of 158 pediatric patients (73.5%) responded to LCM therapy. Of them, 77 patients reported adverse events while under LCM. The LCM plasma concentration was linearly correlated with its daily dose (r = 0.26, p < 0.001). Patients with adverse events reported higher LCM plasma concentrations (7.9 ± 4.0 µg/mL) than patients without adverse events (6.8 ± 3.0 µg/mL; p < 0.05). The poor metabolizer (PM) group demonstrated the highest concentration-to-dose ratio (1.7 ± 0.7 μg·mL<sup>-1</sup>·kg·mg<sup>-1</sup>) than the extensive metabolizer, intermediate metabolizer, and ultra-rapid metabolizer groups (0.8 ± 0.4, 1.0 ± 0.5, and 0.8 ± 0.4 μg·mL<sup>-1</sup>·kg·mg<sup>-1</sup>, respectively). The PM group comprised the highest proportion of patients with effective LCM (9/11, 81.8%) and adverse events (7/11, 63.6%).</p><p><strong>Conclusion: </strong>LCM plasma concentrations were strongly associated with its clinical efficacy and toxicity. CYP2C19 polymorphisms affect the plasma concentration and treatment efficacy in pediatric patients with epilepsy. CYP2C19 PMs with two no-function alleles are likely to have higher LCM plasma concentrations.</p><p><strong>What is known: </strong>• LCM is metabolized by CYP2C19, CYP2C9, and CYP3A4 into pharmacologically inactive O-desmethyl-lacosamide; it primarily undergoes renal elimination. • Plasma LCM concentrations in patients treated with the recommended dose vary widely between and within individuals variability.</p><p><strong>What is new: </strong>• CYP2C19 polymorphisms affect the plasma concentration and treatment efficacy in Chinese pediatric patients with epilepsy. • CYP2C19 PMs with two no-function alleles are likely to have higher plasma LCM concentrations.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"73"},"PeriodicalIF":3.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806406","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}
引用次数: 0
Discrimination against adolescents with chronic diseases: a systematic review.
IF 3 3区 医学
European Journal of Pediatrics Pub Date : 2024-12-10 DOI: 10.1007/s00431-024-05829-4
Roxane Meurillon, Chantal Stheneur, Enora Le Roux
{"title":"Discrimination against adolescents with chronic diseases: a systematic review.","authors":"Roxane Meurillon, Chantal Stheneur, Enora Le Roux","doi":"10.1007/s00431-024-05829-4","DOIUrl":"https://doi.org/10.1007/s00431-024-05829-4","url":null,"abstract":"&lt;p&gt;&lt;p&gt;Discrimination is a social construct that discredits individuals based on attributes deemed socially undesirable. Adolescence is a period of transition where individuals acquire skills, values, and experiences that prepare them for adulthood. Adverse experiences during adolescence could particularly affect these acquisitions. For adolescents, discrimination is an experience that can lead to social and health consequences. Our hypothesis is that adolescents with chronic disease are more likely to be exposed to discrimination than their healthy peers. This systematic review aimed to study the prevalence, nature, and the additional risk of discrimination in adolescents with chronic disease compared to their healthy peers. A systematic review was conducted following PRISMA guidelines, including both quantitative and qualitative studies, published between January 2000 and December 2022. Searches were conducted using several electronic databases, including PubMed, COCHRANE, PsycINFO, EMBASE, CAIRN, and CINAHL. Included articles studied adolescents between 12 and 18 years old affected by one of the most prevalent chronic diseases (obesity, epilepsy, diabetes, respiratory diseases including asthma and cystic fibrosis, cancer, and cardiovascular disease). Those articles reported discrimination from the adolescents' perspective and studied the association between discrimination and disease. We identified 27 studies conducted across almost all continents, including a total of 3,290,446 adolescents. Most of the studies are cross-sectional and recent (published after 2017). They are mainly focused on obesity and epilepsy. All types of discrimination were studied, although cyberbullying was explored in only one study. The prevalence of discrimination was reported in 11 studies and varies depending on the type of chronic disease and contexts (from 14% in adolescents with cystic fibrosis to 99% in adolescents with diabetes). Discrimination was mostly self-reported by the adolescents and it came from multiple sources: peers, parents, or educational and healthcare professionals. It seems that the presence of a chronic disease exposes individuals to an additional risk of discrimination, even though quantifying this risk was not possible due to the diversity of methods.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;Discrimination against adolescents with chronic diseases has received poorly studied in literature even though they appear to be more vulnerable than their peers. The phenomenon is complex since discrimination occurs through several forms and originates from diverse sources. Given the multiple repercussions of discrimination on all aspects of adolescents' life and development, it is essential to study it further. Awareness of discrimination's diversity will allow to establish preventing actions. Early screening could help limit discrimination's prejudice on adolescents' quality of life.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;What is known: &lt;/strong&gt;• Discrimination has a significant i","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"74"},"PeriodicalIF":3.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806400","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}
引用次数: 0
Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.
IF 3 3区 医学
European Journal of Pediatrics Pub Date : 2024-12-10 DOI: 10.1007/s00431-024-05907-7
Merve Yoldas Celik, Ebru Canda, Havva Yazici, Fehime Erdem, Ayse Yuksel Yanbolu, Yasemin Atik Altınok, Cenk Eraslan, Ayca Aykut, Asude Durmaz, Sara Habif, Sema Kalkan Ucar, Mahmut Coker
{"title":"Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.","authors":"Merve Yoldas Celik, Ebru Canda, Havva Yazici, Fehime Erdem, Ayse Yuksel Yanbolu, Yasemin Atik Altınok, Cenk Eraslan, Ayca Aykut, Asude Durmaz, Sara Habif, Sema Kalkan Ucar, Mahmut Coker","doi":"10.1007/s00431-024-05907-7","DOIUrl":"https://doi.org/10.1007/s00431-024-05907-7","url":null,"abstract":"<p><p>Glutaric aciduria type 1 (GA1) is a rare metabolic disorder characterized by a deficiency in the enzyme glutaryl-CoA dehydrogenase. This study aims to present the clinical, biochemical, genetic, and neuroimaging findings of GA1 patients, emphasizing the importance of early detection and the potential benefits of incorporating GA1 into NBS programs. The demographic, clinical, and laboratory findings of GA1 patients were reviewed retrospectively. This study presents the clinical, biochemical, genetic, and neuroimaging findings of 15 patients (six males, nine females) from 13 families diagnosed with GA1. The median age at diagnosis was 20 months, and the median follow-up period was 72 months. Developmental delay was observed in 66.7% of patients, with 46.7% experiencing seizures and 33.3% suffering from encephalopathic crises. Biochemical analyses showed elevated levels of glutaric acid and 3-hydroxyglutaric acid in 93.3% and 80% of patients, respectively. Genetic testing identified the p.Arg402Trp variant in 53.3% of patients. Neurological evaluations revealed delays in motor and speech development, with 66.7% of patients never achieving the ability to walk. Cranial MRI indicated white matter changes in all patients and basal ganglia involvement in 93.3%. Despite significant biochemical improvements with treatment in glutaric acid levels and head circumference over time, neurological deficits remain unchanged. Growth parameters such as body weight showed significant decreases due to poor neurological outcomes.</p><p><strong>Conclusion: </strong>The study underscores the importance of early diagnosis and intervention to mitigate severe neurological outcomes. Our findings highlight the need for incorporating GA1 into newborn screening programs to ensure timely diagnosis and treatment.</p><p><strong>What is known: </strong>• Glutaric aciduria type 1 (GA1) is a rare metabolic disorder caused by a deficiency of glutaryl-CoA dehydrogenase. If untreated, it often leads to severe neurological complications. Early diagnosis and treatment are crucial for improving clinical outcomes in GA1 patients.</p><p><strong>What is new: </strong>• This study presents comprehensive data from a cohort of 15 Glutaric aciduria type 1 (GA1) patients, detailing their biochemical, genetic, clinical, and neuroimaging findings. Drawing attention to the severe neurological findings in late-diagnosed patients underscores the critical importance of including GA1 in newborn screening programs to enhance early diagnosis and prevent severe outcomes.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"72"},"PeriodicalIF":3.0,"publicationDate":"2024-12-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142806417","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}
引用次数: 0
Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.
IF 3 3区 医学
European Journal of Pediatrics Pub Date : 2024-12-07 DOI: 10.1007/s00431-024-05855-2
Akçahan Akalın, Şervan Özalkak, Ruken Yıldırım, Amine Aktar Karakaya, Barış Kolbaşı, Enise Avcı Durmuşalioğlu, Funda Kökali, Gizem Ürel-Demir, Veysel Öz, Edip Ünal, Tahir Atik, Pelin Özlem Şimşek-Kiper, Nursel H Elcioglu
{"title":"Clinical and molecular spectrum along with genotype-phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey.","authors":"Akçahan Akalın, Şervan Özalkak, Ruken Yıldırım, Amine Aktar Karakaya, Barış Kolbaşı, Enise Avcı Durmuşalioğlu, Funda Kökali, Gizem Ürel-Demir, Veysel Öz, Edip Ünal, Tahir Atik, Pelin Özlem Şimşek-Kiper, Nursel H Elcioglu","doi":"10.1007/s00431-024-05855-2","DOIUrl":"https://doi.org/10.1007/s00431-024-05855-2","url":null,"abstract":"<p><p>3 M syndrome is a well-known autosomal recessive skeletal genetic disorder caused by biallelic pathogenic variants in the CUL7, OBSL1, and CCDC8 genes. Affected individuals exhibit profound pre- and postnatal growth retardation, distinctive facial features with normal intelligence. This study aims to provide insight into the comprehensive evaluation of clinical, laboratory, and radiological findings, expand the mutational spectrum of the disease, and establish a genotype-phenotype correlation in the present cases. A total of 25 patients from 19 unrelated families were included in the study. Genetic etiology was determined in probands through the utilization of Sanger sequencing and/or targeted gene panel analysis. The clinical, laboratory, and genetic features of all patients at admission and during follow-up were documented. Genotype-phenotype correlation was carried out in the CUL7 and OBSL1 groups. The genetic etiology was established in all patients (n = 25/25, 100%). We identified 15 distinct variants in CUL7, OBSL1, and CCDC8 genes, with eleven being novel. CUL7 variants were present in 13 patients (n = 13/25, 52%), while OBSL1 variants were found in 11 patients (n = 11/25, 44%). No notable distinctions were found in mean birth weight, height, and standard deviation scores between the CUL7 and OBSL1 mutation groups (p > 0.05). Patients with CUL7 variants exhibited significantly lower height standard deviation scores both at admission and at the last examination, as well as lower weight standard deviation scores at the last examination, compared to those with OBSL1 variants (p < 0.05).</p><p><strong>Conclusion: </strong>To date, genotype-phenotype correlations have been identified in a limited number of studies. Further research involving larger cohorts is necessary to solidify these correlations.</p><p><strong>What is known: </strong>• 3M syndrome is a well-known skeletal dysplasia caused by biallelic pathogenic variants in CUL7, OBSL1, and CCDC8 genes. • Despite genetic heterogeneity, clinical, and radiologic features show homogeneity in affected individuals.</p><p><strong>What is new: </strong>• Genotype-phenotype correlations have been established in limited studies. • The CUL7 group exhibited significantly lower height SDS at both admission and the final evaluation and lower weight SDS at the final examination compared to the OBSL1 group. • The frequency of variants in the OBSL1 gene among Turkish patients exceeds the rates reported in the literature. • Gradenigo syndrome is being reported for the first time in a patient with 3M syndrome.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"68"},"PeriodicalIF":3.0,"publicationDate":"2024-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791239","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}
引用次数: 0
Recovery from HPV vaccination deficits caused by the COVID-19 pandemic in Germany: a modeling study of catch-up HPV vaccination among adolescent girls.
IF 3 3区 医学
European Journal of Pediatrics Pub Date : 2024-12-07 DOI: 10.1007/s00431-024-05910-y
Kunal Saxena, Cornelia Wähner, Agnes Luzak, Thorsten Reuter, Edith Morais, Ya-Ting Chen
{"title":"Recovery from HPV vaccination deficits caused by the COVID-19 pandemic in Germany: a modeling study of catch-up HPV vaccination among adolescent girls.","authors":"Kunal Saxena, Cornelia Wähner, Agnes Luzak, Thorsten Reuter, Edith Morais, Ya-Ting Chen","doi":"10.1007/s00431-024-05910-y","DOIUrl":"10.1007/s00431-024-05910-y","url":null,"abstract":"<p><p>Health care disruptions associated with the COVID-19 pandemic have caused persistent decreases in human papillomavirus (HPV) vaccination uptake in Germany. The objective of this study was to estimate the cumulative deficit in first doses of the HPV vaccine administered to girls in Germany since the beginning of the pandemic and the projected time to recover from this deficit at different catch-up vaccination uptake levels, focusing on girls 9-14 years of age. This study used a published HPV vaccination modeling tool. Retrospective vaccination data from 2019 were used to calculate the baseline vaccination rate, while data from 1 January 2020 to 31 December 2023 were used to estimate the size and duration of the HPV vaccination deficit accrued since the beginning of the COVID-19 pandemic. We modeled scenarios in which the rate of monthly vaccinations increased from the 2023 average to 5%, 10%, or 15% above the baseline 2019 level. The average monthly number of first doses of HPV vaccine administered to girls 9-14 years of age was 7.4% below the 2019 baseline level in 2020, 21.2% below baseline in 2021, 21.0% below baseline in 2022, and 19.5% below baseline in 2023. At a catch-up vaccination uptake of 5-15% above the 2019 baseline, there would be an estimated accumulated deficit of 267,052-285,798 first doses by 31 December 2024 that would clear between October 2029-April 2040. A catch-up vaccination uptake of 12.3% (11.9-12.7%) every month above baseline would be needed to clear the accumulated deficit by the end of 2030. Conclusions: Significant HPV vaccination deficits have accrued in Germany since the beginning of the COVID-19 pandemic. Sustained efforts to vaccinate the affected cohorts are now needed to mitigate the long-term impacts of the vaccination deficit. What is known: • Health care disruptions associated with the COVID-19 pandemic have caused persistent decreases in human papillomavirus (HPV) vaccination uptake in Germany. What is new: • Our model projected that the HPV vaccination deficit would be cleared between October 2029 (15% above the 2019 baseline level) and April 2040 (5% above the 2019 baseline level). • A catch-up rate of 12.3% (11.9-12.7%) above the 2019 baseline level would be needed to clear the HPV vaccination deficit by 31 December 2030. • Sustained efforts to vaccinate the affected cohorts are now needed to mitigate the long-term impacts of the accrued vaccination deficit on mortality, morbidity, and health care costs from HPV-associated diseases.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"71"},"PeriodicalIF":3.0,"publicationDate":"2024-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11625053/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791261","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}
引用次数: 0
Non-restraint in pediatric ankle sprain: a non-inferiority randomized clinical trial.
IF 3 3区 医学
European Journal of Pediatrics Pub Date : 2024-12-07 DOI: 10.1007/s00431-024-05904-w
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
{"title":"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/s00431-024-05904-w","DOIUrl":"10.1007/s00431-024-05904-w","url":null,"abstract":"<p><p>Ankle sprains are common injuries in pediatric populations, yet current literature lacks consensus on optimal management strategies. This study aimed to compare the effectiveness of non-restraint treatment versus bandaging in children with mild ankle sprains, focusing on functional recovery and pain management.A single-center, open-label, non-inferiority randomized clinical trial was conducted at a pediatric emergency service. Patients aged 5-16 years with mild ankle sprains were included. Participants were randomized in a 1:1 ratio to receive either a standardized functional bandage or only general measures with non-restraint. The primary endpoints were a 10-point difference in the OXAFQ-C and a 2-point difference in pain intensity at day 5 after discharge. A total of 113 participants were randomly assigned to receive a functional bandage (n = 51) or non-restraint measures (n = 62). At day 5, the OXAFQ-C score in the non-restraint group was 76.59 (SD 15.51) and 69.71 (SD 15.24) in the restraint group, with a mean difference of 6.295 (90% CI - 0.058 to 12.647). The mean difference in pain intensity was 0.048 (90% CI - 0.741 to 0.838). No differences were observed in the OXAFQ-C scores or pain intensity at 14 and 30 days. Conclusions: This single-center, randomized clinical trial demonstrates that non-restraint is non-inferior to bandaging for functional recovery and short- to medium-term pain management in pediatric patients with mild ankle sprains. The treatment was very well accepted among patients and no adverse effects were reported.Trial registration: Retrospectively registered in January 2024 on clinicaltrials.org with identifier: NCT06189625. What is Known • Current literature lacks consensus on optimal ankle sprain management, with no evidence supporting non-restraint approaches. Guidelines recommend immobilization despite insufficient comparative data on different restraint systems. Some studies seem to demonstrate that early mobilization may offer better outcomes. What is New • This study contributes novel evidence by demonstrating the non-inferiority of non-restraint treatment compared to bandaging in pediatric ankle sprains. It highlights the safety and efficacy of early mobilization without restraint, suggesting a potential shift in standard management practices.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"70"},"PeriodicalIF":3.0,"publicationDate":"2024-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11625057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791256","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}
引用次数: 0
Computed tomography versus radiography for the detection of rib and skull fractures in paediatric suspected physical abuse: a systematic review.
IF 3 3区 医学
European Journal of Pediatrics Pub Date : 2024-12-07 DOI: 10.1007/s00431-024-05894-9
Ahmed Mohammed, Eimear Mahon, Niamh Moore, Lorna Sweetman, Michael Maher, Patrick O'Regan, Andrew England, Mark F McEntee
{"title":"Computed tomography versus radiography for the detection of rib and skull fractures in paediatric suspected physical abuse: a systematic review.","authors":"Ahmed Mohammed, Eimear Mahon, Niamh Moore, Lorna Sweetman, Michael Maher, Patrick O'Regan, Andrew England, Mark F McEntee","doi":"10.1007/s00431-024-05894-9","DOIUrl":"https://doi.org/10.1007/s00431-024-05894-9","url":null,"abstract":"<p><p>The diagnosis of suspected physical abuse (SPA) remains a continuous challenge to paediatric healthcare. Several studies have reported that computed tomography (CT) improves the evaluation of SPA. This study aims to systematically review the diagnostic performance of CT compared to radiography in investigating skull and chest fractures for SPA. Multiple databases were searched, using PRISMA methods, from 2008 to August 2024 for relevant studies in English. Two reviewers independently screened and selected relevant studies using Covidence software. The QUADAS-2 tool was used for the quality assessment of the included papers. Sensitivity, specificity and the effective radiation dose of CT and radiography from the included studies were extracted. Pooled sensitivity and specificity were calculated with their respective 95% confidence intervals (CI). GRADE criteria were used to appraise the overall quality of the synthesis. Of the 4057 identified papers, 10 met the inclusion criteria; all 10 included skull and/or chest. The overall sensitivity and specificity of CT were 96.5% (95% CI, 94.9-97.7%) and 99.5% (95% CI, 99.1-99.8%), respectively. Compared to the sensitivity and specificity of radiography, 59.8% (95% CI, 56.2-63.3%) and 99.7% (95% CI, 99.3-99.8%), respectively. Conclusion: CT sensitivity is significantly higher than radiography in detecting rib and skull fractures for SPA. The effective dose for chest LDCT is comparable to that of radiography. Therefore, LDCT should be considered a potential replacement to radiography in SPA investigations for the chest and skull. What is Known • CT shows higher diagnostic performance than radiography in detecting skull and rib fractures in the diagnosis of SPA. What is New • When a head CT scan is acquired for SPA diagnosis at any age, the two-view skull radiograph can be safely eliminated from the Skeletal Survey protocol, likewise, Chest CT can replace chest radiography for SPA diagnosis of rib fractures. • The effective dose and image quality of low-dose chest CT is comparable to that of two-view chest radiography for SPA diagnosis.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"69"},"PeriodicalIF":3.0,"publicationDate":"2024-12-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142791251","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}
引用次数: 0
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