Background: An increased number of double-negative T (DNT) cells expressing the αβ T cell receptor (αβ+DNT cells) is one of the diagnostic criteria for autoimmune lymphoproliferative syndrome (ALPS). Moreover, these cells are expanded in a widely used murine model for lupus. However, the homeostasis of αβ+DNT cells remains inadequately investigated in rheumatic disorders, especially in pediatric patients.
Methods: In this cross-sectional, prospective, and observational study, children with rheumatic disorders and healthy controls were recruited to analyze the quantity and characteristics of circulating DNT cells using flow cytometry.
Results: Overall, the two study groups did not differ in their total DNT cell pool in the bloodstream. However, the number of αβ+DNT cells was significantly higher in rheumatic children than that in the controls, whereas the γδ+DNT cells remained similar. This expansion in the circulating pool of αβ+DNT cells was comparable across different rheumatic diseases, all showing significant differences from the controls in this regard. Moreover, no significant correlation was found between αβ+DNT cell numbers and disease activity.
Conclusions: These preliminary results indicate that circulating αβ+DNT cells are significantly expanded in children with rheumatic disorders; however, this finding appears to be a nonspecific (disease-unrelated) marker of autoimmunity. Further and larger studies are necessary to better investigate and define the role of DNT cells in pediatric rheumatic diseases.
{"title":"Nonspecific increase of αβTCR<sup>+</sup> double-negative T cells in pediatric rheumatic diseases.","authors":"Kuanysh Dossybayeva, Gulsamal Zhubanova, Assel Mussayeva, Zaure Mukusheva, Aiken Dildabayeva, Galiya Nauryzbayeva, Lyudmila Akhmaltdinova, Ulbolsyn Orumbayeva, Matthew Tanko, Dimitri Poddighe","doi":"10.1007/s12519-024-00854-7","DOIUrl":"10.1007/s12519-024-00854-7","url":null,"abstract":"<p><strong>Background: </strong>An increased number of double-negative T (DNT) cells expressing the αβ T cell receptor (αβ<sup>+</sup>DNT cells) is one of the diagnostic criteria for autoimmune lymphoproliferative syndrome (ALPS). Moreover, these cells are expanded in a widely used murine model for lupus. However, the homeostasis of αβ<sup>+</sup>DNT cells remains inadequately investigated in rheumatic disorders, especially in pediatric patients.</p><p><strong>Methods: </strong>In this cross-sectional, prospective, and observational study, children with rheumatic disorders and healthy controls were recruited to analyze the quantity and characteristics of circulating DNT cells using flow cytometry.</p><p><strong>Results: </strong>Overall, the two study groups did not differ in their total DNT cell pool in the bloodstream. However, the number of αβ<sup>+</sup>DNT cells was significantly higher in rheumatic children than that in the controls, whereas the γδ<sup>+</sup>DNT cells remained similar. This expansion in the circulating pool of αβ<sup>+</sup>DNT cells was comparable across different rheumatic diseases, all showing significant differences from the controls in this regard. Moreover, no significant correlation was found between αβ<sup>+</sup>DNT cell numbers and disease activity.</p><p><strong>Conclusions: </strong>These preliminary results indicate that circulating αβ<sup>+</sup>DNT cells are significantly expanded in children with rheumatic disorders; however, this finding appears to be a nonspecific (disease-unrelated) marker of autoimmunity. Further and larger studies are necessary to better investigate and define the role of DNT cells in pediatric rheumatic diseases.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1283-1292"},"PeriodicalIF":6.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11634929/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142740067","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-11-14DOI: 10.1007/s12519-024-00848-5
Yu-Mei Mi, Ji-Kui Deng, Ting Zhang, Qing Cao, Chuan-Qing Wang, Sheng Ye, Ying-Hu Chen, Han-Qing He, Bei-Bei Wu, Yan Liu, Mei Zeng, Wei Li, Fang Wu, Hong-Mei Xu, Shi-Yong Zhao, Gang Liu, Wang Hua, Dan Xu, Guan-Nan Bai, Ying Yang, Li-Su Huang, Yi-Ping Chen, Kai-Hu Yao, Zhu-Jun Shao, Chun-Zhen Hua
Background: Pertussis resurgence has been reported worldwide in the past two decades. Pertussis is still endemic and difficult to control though with universal vaccination in children. The resurgence may be related to multiple variables, such as increased disease awareness and laboratory tests, waning of immunity following vaccination, and/or genetic mutations of Bordetella pertussis. For better pertussis prevention, diagnosis, and management, we called up an expert panel to develop this expert consensus to provide new concepts in diagnosis and treatment for clinical practice.
Data sources: The expert groups collected clinical evidence, summarized their clinical experiences, evaluated preliminary recommendations or guidelines, and then organized open-ended discussions to form the recommendations. This consensus was developed by reviewing the literature and studies in databases, including PubMed, Cochrane, EMBASE, the China Biomedical Database, and the Chinese Journal Full-text Database up to May 2024. The search terms included "pertussis" or "whooping cough", "children", "diagnosis", and "treatment".
Results: The burden of pertussis has also changed from infants to school children and adults, and these age groups have consequently become the main source of infection for vulnerable population including infants and newborns. In China, a high prevalence of erythromycin-resistant Bordetella pertussis (ERBP) has been reported in the past decade. ERBP may lead to failed clinical empirical treatment with macrolides, which poses a great challenge for pertussis management and control. For better management of pertussis, a flow diagram for diagnosis and treatment of pertussis was presented in this consensus. This consensus also described the diagnostic criteria for pertussis, high-risk cases, and severe pertussis. Macrolides can still be used to treat confirmed erythromycin-sensitive B. pertussis (ESBP) infections, whereas oral trimethoprim-sulfamethoxazole therapy is the initial treatment option for children older than two months. For infants younger than two months, severe patients, or those exhibiting a high degree of sulfonamide allergy, intravenous administration of piperacillin or cefoperazone-sulbactam is advised.
Conclusions: This expert consensus provides a comprehensive guidance and a reference for the diagnosis and treatment of pertussis in children.
{"title":"Expert consensus for pertussis in children: new concepts in diagnosis and treatment.","authors":"Yu-Mei Mi, Ji-Kui Deng, Ting Zhang, Qing Cao, Chuan-Qing Wang, Sheng Ye, Ying-Hu Chen, Han-Qing He, Bei-Bei Wu, Yan Liu, Mei Zeng, Wei Li, Fang Wu, Hong-Mei Xu, Shi-Yong Zhao, Gang Liu, Wang Hua, Dan Xu, Guan-Nan Bai, Ying Yang, Li-Su Huang, Yi-Ping Chen, Kai-Hu Yao, Zhu-Jun Shao, Chun-Zhen Hua","doi":"10.1007/s12519-024-00848-5","DOIUrl":"10.1007/s12519-024-00848-5","url":null,"abstract":"<p><strong>Background: </strong>Pertussis resurgence has been reported worldwide in the past two decades. Pertussis is still endemic and difficult to control though with universal vaccination in children. The resurgence may be related to multiple variables, such as increased disease awareness and laboratory tests, waning of immunity following vaccination, and/or genetic mutations of Bordetella pertussis. For better pertussis prevention, diagnosis, and management, we called up an expert panel to develop this expert consensus to provide new concepts in diagnosis and treatment for clinical practice.</p><p><strong>Data sources: </strong>The expert groups collected clinical evidence, summarized their clinical experiences, evaluated preliminary recommendations or guidelines, and then organized open-ended discussions to form the recommendations. This consensus was developed by reviewing the literature and studies in databases, including PubMed, Cochrane, EMBASE, the China Biomedical Database, and the Chinese Journal Full-text Database up to May 2024. The search terms included \"pertussis\" or \"whooping cough\", \"children\", \"diagnosis\", and \"treatment\".</p><p><strong>Results: </strong>The burden of pertussis has also changed from infants to school children and adults, and these age groups have consequently become the main source of infection for vulnerable population including infants and newborns. In China, a high prevalence of erythromycin-resistant Bordetella pertussis (ERBP) has been reported in the past decade. ERBP may lead to failed clinical empirical treatment with macrolides, which poses a great challenge for pertussis management and control. For better management of pertussis, a flow diagram for diagnosis and treatment of pertussis was presented in this consensus. This consensus also described the diagnostic criteria for pertussis, high-risk cases, and severe pertussis. Macrolides can still be used to treat confirmed erythromycin-sensitive B. pertussis (ESBP) infections, whereas oral trimethoprim-sulfamethoxazole therapy is the initial treatment option for children older than two months. For infants younger than two months, severe patients, or those exhibiting a high degree of sulfonamide allergy, intravenous administration of piperacillin or cefoperazone-sulbactam is advised.</p><p><strong>Conclusions: </strong>This expert consensus provides a comprehensive guidance and a reference for the diagnosis and treatment of pertussis in children.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1209-1222"},"PeriodicalIF":6.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11634942/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628924","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-12-03DOI: 10.1007/s12519-024-00859-2
Yi-Tong Lin, Yi-Xuan Gao, Yan Zhang, Ai-Li Cui, Hui-Ling Wang, Zhen Zhu, Nai-Ying Mao
Background: Seroprevalence studies across various countries can contribute to achieving the elimination target for measles and rubella. However, in the Mainland of China, the concept of herd immunity remains unclear due to the lack of a nationwide serosurvey.
Methods: This systematic review and meta-analysis was conducted by retrieving literature reporting the seroprevalence of measles and rubella published between 2012 and 2023. The pooled positive rates and estimated geometric mean concentrations (GMCs) of measles and rubella immunoglobulin G antibodies were calculated.
Results: This study analysed 135 studies on measles and 77 on rubella, including data from 368,023 and 177,422 healthy individuals, respectively. Between 2010 and 2022, the overall pooled positive rates for measles and rubella antibodies were 88.8% and 79.91%, respectively. The age-specific susceptibility analysis showed that infants aged < 1 year had the lowest pooled positive rates. Other age groups had a roughly U-shaped distribution, with relatively higher positive rates and GMC of measles and rubella antibodies in young children and older age groups. However, the positive rates for both measles and rubella antibodies fell below the elimination threshold in almost all age groups other than young children aged 1-4 years, especially in recent years. In addition, antibody positivity rates varied by geographical region and decreased with economic level.
Conclusion: Our findings provide preliminary insights into herd immunity for measles and rubella, highlighting the challenges to achieving their elimination in China.
{"title":"Epidemic risks of measles and rubella in China: a systematic review and meta-analysis.","authors":"Yi-Tong Lin, Yi-Xuan Gao, Yan Zhang, Ai-Li Cui, Hui-Ling Wang, Zhen Zhu, Nai-Ying Mao","doi":"10.1007/s12519-024-00859-2","DOIUrl":"10.1007/s12519-024-00859-2","url":null,"abstract":"<p><strong>Background: </strong>Seroprevalence studies across various countries can contribute to achieving the elimination target for measles and rubella. However, in the Mainland of China, the concept of herd immunity remains unclear due to the lack of a nationwide serosurvey.</p><p><strong>Methods: </strong>This systematic review and meta-analysis was conducted by retrieving literature reporting the seroprevalence of measles and rubella published between 2012 and 2023. The pooled positive rates and estimated geometric mean concentrations (GMCs) of measles and rubella immunoglobulin G antibodies were calculated.</p><p><strong>Results: </strong>This study analysed 135 studies on measles and 77 on rubella, including data from 368,023 and 177,422 healthy individuals, respectively. Between 2010 and 2022, the overall pooled positive rates for measles and rubella antibodies were 88.8% and 79.91%, respectively. The age-specific susceptibility analysis showed that infants aged < 1 year had the lowest pooled positive rates. Other age groups had a roughly U-shaped distribution, with relatively higher positive rates and GMC of measles and rubella antibodies in young children and older age groups. However, the positive rates for both measles and rubella antibodies fell below the elimination threshold in almost all age groups other than young children aged 1-4 years, especially in recent years. In addition, antibody positivity rates varied by geographical region and decreased with economic level.</p><p><strong>Conclusion: </strong>Our findings provide preliminary insights into herd immunity for measles and rubella, highlighting the challenges to achieving their elimination in China.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1223-1239"},"PeriodicalIF":6.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142772805","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-11-30DOI: 10.1007/s12519-024-00858-3
Hyesu Jo, Jaeyu Park, Hyeri Lee, Kyeongmin Lee, Hayeon Lee, Yejun Son, Jiseung Kang, Sooji Lee, Yujin Choi, Jun Hyuk Lee, Guillaume Fond, Laurent Boyer, Lee Smith, Jinseok Lee, Guillermo Felipe López Sánchez, Elena Dragioti, Mark A Tully, Masoud Rahmati, Ho Geol Woo, Selin Woo, Dong Keon Yon
Background: Researches on the mental health of Korean adolescents during COVID-19 have largely focused on those from monocultural families, but there is limited data on sadness, suicidal ideation, and suicide attempts in multicultural adolescents.
Methods: This nationwide serial cross-sectional study included 688,708 adolescents aged 12-18 years who participated in the Korean Youth Risk Behavior Web-based Survey from 2011 to 2022. We compared and analyzed the prevalence of sadness, suicidal ideation, and suicide attempts among multicultural and monocultural adolescents. Multicultural adolescents were defined as those with at least one non-Korean parent.
Results: In 2021, the prevalence of sadness among multicultural adolescents was 31.86% [95% confidence interval (CI) 30.00-33.71], suicidal ideation 17.17% (15.74-18.61), and suicide attempts 4.25% (3.51-4.99). Among monocultural adolescents, the prevalence rates were 26.09% (25.50-26.69) for sadness, 12.41% (11.97-12.85) for suicidal ideation, and 1.92% (1.76-2.67) for suicide attempts. Adolescents from multicultural backgrounds were found to have higher rates of sadness, suicidal ideation, and suicide attempts. In the general population, these rates had decreased during the pre-pandemic period but increased after the onset of the pandemic then stabilized from 2020 to 2021. Female gender, smoking, alcohol use, and low school performance emerged as significant risk factors. However, no distinct risk factors specifically linked to suicide attempts were identified. Joinpoint regression analysis results aligned with the beta slope values in the main findings, reflecting a consistent pattern across both analyses.
Conclusions: This study revealed that sadness, suicidal ideation, and suicide attempts increased during the pandemic, reversing a pre-pandemic decline. Multicultural adolescents faced these issues more than monocultural ones, underlining the need for targeted public health measures to support at-risk adolescents during pandemics.
{"title":"Nationwide trends in sadness, suicidal ideation, and suicide attempts among multicultural and monocultural adolescents in South Korea during the COVID-19 pandemic, 2011-2022.","authors":"Hyesu Jo, Jaeyu Park, Hyeri Lee, Kyeongmin Lee, Hayeon Lee, Yejun Son, Jiseung Kang, Sooji Lee, Yujin Choi, Jun Hyuk Lee, Guillaume Fond, Laurent Boyer, Lee Smith, Jinseok Lee, Guillermo Felipe López Sánchez, Elena Dragioti, Mark A Tully, Masoud Rahmati, Ho Geol Woo, Selin Woo, Dong Keon Yon","doi":"10.1007/s12519-024-00858-3","DOIUrl":"10.1007/s12519-024-00858-3","url":null,"abstract":"<p><strong>Background: </strong>Researches on the mental health of Korean adolescents during COVID-19 have largely focused on those from monocultural families, but there is limited data on sadness, suicidal ideation, and suicide attempts in multicultural adolescents.</p><p><strong>Methods: </strong>This nationwide serial cross-sectional study included 688,708 adolescents aged 12-18 years who participated in the Korean Youth Risk Behavior Web-based Survey from 2011 to 2022. We compared and analyzed the prevalence of sadness, suicidal ideation, and suicide attempts among multicultural and monocultural adolescents. Multicultural adolescents were defined as those with at least one non-Korean parent.</p><p><strong>Results: </strong>In 2021, the prevalence of sadness among multicultural adolescents was 31.86% [95% confidence interval (CI) 30.00-33.71], suicidal ideation 17.17% (15.74-18.61), and suicide attempts 4.25% (3.51-4.99). Among monocultural adolescents, the prevalence rates were 26.09% (25.50-26.69) for sadness, 12.41% (11.97-12.85) for suicidal ideation, and 1.92% (1.76-2.67) for suicide attempts. Adolescents from multicultural backgrounds were found to have higher rates of sadness, suicidal ideation, and suicide attempts. In the general population, these rates had decreased during the pre-pandemic period but increased after the onset of the pandemic then stabilized from 2020 to 2021. Female gender, smoking, alcohol use, and low school performance emerged as significant risk factors. However, no distinct risk factors specifically linked to suicide attempts were identified. Joinpoint regression analysis results aligned with the beta slope values in the main findings, reflecting a consistent pattern across both analyses.</p><p><strong>Conclusions: </strong>This study revealed that sadness, suicidal ideation, and suicide attempts increased during the pandemic, reversing a pre-pandemic decline. Multicultural adolescents faced these issues more than monocultural ones, underlining the need for targeted public health measures to support at-risk adolescents during pandemics.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1249-1269"},"PeriodicalIF":6.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142772808","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-11-30DOI: 10.1007/s12519-024-00857-4
Yao Chen, Yi-Jun Tang, Xin Li, Xiu-Min Wang
{"title":"What can we do for the adolescents with polycystic ovary syndrome?","authors":"Yao Chen, Yi-Jun Tang, Xin Li, Xiu-Min Wang","doi":"10.1007/s12519-024-00857-4","DOIUrl":"10.1007/s12519-024-00857-4","url":null,"abstract":"","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1205-1208"},"PeriodicalIF":6.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142772810","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-11-05DOI: 10.1007/s12519-024-00846-7
Chi Chen, Chao Zhang, Ding-Wen Wu, Bing-Yi Wang, Rui Xiao, Xiao-Lei Huang, Xin Yang, Zhi-Gang Gao, Ru-Lai Yang
Background: Newborn screening (NBS) for severe combined immunodeficiency (SCID), X-linked agammaglobulinemia (XLA), and spinal muscular atrophy (SMA) enables early diagnosis and intervention, significantly improving patient outcomes. Advances in real-time polymerase chain reaction (PCR) technology have been instrumental in facilitating their inclusion in NBS programs.
Methods: We employed multiplex real-time PCR to simultaneously detect T-cell receptor excision circles (TRECs), kappa-deleting recombination excision circles (KRECs), and the absence of the survival motor neuron (SMN) 1 gene in dried blood spots from 103,240 newborns in Zhejiang Province, China, between July 2021 and December 2022.
Results: Of all the samples, 122 were requested further evaluation. After flow cytometry evaluation and/or genetic diagnostics, we identified one patient with SCID, two patients with XLA, nine patients with SMA [one of whom also had Wiskott-Aldrich Syndrome (WAS)], and eight patients with other medical conditions. The positive predictive values (PPVs) of NBS for SCID, XLA, and SMA were 2.44%, 2.78%, and 100%, respectively. The estimated prevalence rates in the Chinese population were 1 in 103,240 for SCID, 1 in 51,620 for XLA, and 1 in 11,471 for SMA.
Conclusion: This study represents the first large-scale screening in mainland China using a TREC/KREC/SMN1 multiplex assay, providing valuable epidemiological data. Our findings suggest that this multiplex assay is an effective screening method for SCID, XLA, and SMA, potentially supporting the universal implementation of NBS programs across China.
{"title":"Comprehensive newborn screening for severe combined immunodeficiency, X-linked agammaglobulinemia, and spinal muscular atrophy: the Chinese experience.","authors":"Chi Chen, Chao Zhang, Ding-Wen Wu, Bing-Yi Wang, Rui Xiao, Xiao-Lei Huang, Xin Yang, Zhi-Gang Gao, Ru-Lai Yang","doi":"10.1007/s12519-024-00846-7","DOIUrl":"10.1007/s12519-024-00846-7","url":null,"abstract":"<p><strong>Background: </strong>Newborn screening (NBS) for severe combined immunodeficiency (SCID), X-linked agammaglobulinemia (XLA), and spinal muscular atrophy (SMA) enables early diagnosis and intervention, significantly improving patient outcomes. Advances in real-time polymerase chain reaction (PCR) technology have been instrumental in facilitating their inclusion in NBS programs.</p><p><strong>Methods: </strong>We employed multiplex real-time PCR to simultaneously detect T-cell receptor excision circles (TRECs), kappa-deleting recombination excision circles (KRECs), and the absence of the survival motor neuron (SMN) 1 gene in dried blood spots from 103,240 newborns in Zhejiang Province, China, between July 2021 and December 2022.</p><p><strong>Results: </strong>Of all the samples, 122 were requested further evaluation. After flow cytometry evaluation and/or genetic diagnostics, we identified one patient with SCID, two patients with XLA, nine patients with SMA [one of whom also had Wiskott-Aldrich Syndrome (WAS)], and eight patients with other medical conditions. The positive predictive values (PPVs) of NBS for SCID, XLA, and SMA were 2.44%, 2.78%, and 100%, respectively. The estimated prevalence rates in the Chinese population were 1 in 103,240 for SCID, 1 in 51,620 for XLA, and 1 in 11,471 for SMA.</p><p><strong>Conclusion: </strong>This study represents the first large-scale screening in mainland China using a TREC/KREC/SMN1 multiplex assay, providing valuable epidemiological data. Our findings suggest that this multiplex assay is an effective screening method for SCID, XLA, and SMA, potentially supporting the universal implementation of NBS programs across China.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1270-1282"},"PeriodicalIF":6.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11634924/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142583905","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-11-13DOI: 10.1007/s12519-024-00849-4
Daniel Hinojosa-Nogueira, Marika Dello Russo, Beatriz Navajas-Porras, Adriana Delgado-Osorio, Sergio Pérez-Burillo, Stefania La Grutta, Giovanna Cilluffo, Velia Malizia, Silvia Pastoriza de la Cueva, Fabio Lauria, José Ángel Rufián-Henares
Background: Asthma is a common, multifactorial chronic disease with a major impact on children and adolescents. Exposure to food contaminants is one of the contributing factors to asthma. This study aims to evaluate the intake and exposure of different contaminants and explore their association with childhood asthma.
Methods: The Childhood Asthma and Environment Research study evaluated Italian children aged 5-14 years, divided into control and asthma case groups. Dietary habits were recorded, and exposure to 11 food contaminants was estimated with the CONT11 database. The study included 428 children, 264 with asthma and 164 without.
Results: The findings of this study were consistent with those reported in other studies, indicating that exposure to nitrates and acrylamide was significantly higher in asthmatic children. The results suggest that exposure to certain contaminants could have a more pronounced effect on asthmatic children.
Conclusions: The study demonstrates the importance of tools such as CONT11 in assessing food safety. Furthermore, it reinforces the need to prevent and reduce exposure to food contaminants to minimize health risks.
{"title":"Associations between the prevalence of asthma and dietary exposure to food contaminants in children: CHASER study.","authors":"Daniel Hinojosa-Nogueira, Marika Dello Russo, Beatriz Navajas-Porras, Adriana Delgado-Osorio, Sergio Pérez-Burillo, Stefania La Grutta, Giovanna Cilluffo, Velia Malizia, Silvia Pastoriza de la Cueva, Fabio Lauria, José Ángel Rufián-Henares","doi":"10.1007/s12519-024-00849-4","DOIUrl":"10.1007/s12519-024-00849-4","url":null,"abstract":"<p><strong>Background: </strong>Asthma is a common, multifactorial chronic disease with a major impact on children and adolescents. Exposure to food contaminants is one of the contributing factors to asthma. This study aims to evaluate the intake and exposure of different contaminants and explore their association with childhood asthma.</p><p><strong>Methods: </strong>The Childhood Asthma and Environment Research study evaluated Italian children aged 5-14 years, divided into control and asthma case groups. Dietary habits were recorded, and exposure to 11 food contaminants was estimated with the CONT11 database. The study included 428 children, 264 with asthma and 164 without.</p><p><strong>Results: </strong>The findings of this study were consistent with those reported in other studies, indicating that exposure to nitrates and acrylamide was significantly higher in asthmatic children. The results suggest that exposure to certain contaminants could have a more pronounced effect on asthmatic children.</p><p><strong>Conclusions: </strong>The study demonstrates the importance of tools such as CONT11 in assessing food safety. Furthermore, it reinforces the need to prevent and reduce exposure to food contaminants to minimize health risks.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1240-1248"},"PeriodicalIF":6.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628917","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-12-01Epub Date: 2024-11-15DOI: 10.1007/s12519-024-00850-x
Jun-Li Wang, Run-Qi Huang, Chun-Yan Tang, Wen-Jie Wu, Fei Li, Tai Ren, Jun Wang, Wei-Hua Pan
Background: Children undergoing surgical anastomosis for long-gap esophageal atresia (LGEA) often suffer from complications related to delayed oral feeding, which may impair their early development. Clinical swallow evaluation (CSE) is an effective technique to improve feeding outcomes. However, there are limited evidences on the application of CSE in these children.
Methods: Since 2020, serial CSEs have been consistently implemented for children undergoing anastomosis for LGEA in our hospital. We conducted a retrospective study comparing 19 children who received CSE with 31 historical controls who did not. Inverse probability of treatment weighting (IPTW) was applied to balance preoperative characteristics. We compared the time from surgery to full oral feeding and the rate of postoperative complications between the two groups. Growth curves for length-for-age Z score (LAZ) and weight-for-age Z score (WAZ) up to age 3 were fitted using generalized additive mixed models.
Results: The median time to full oral feeding was 1.1 months [interquartile range (IQR), 0.8-2.4] in the CSE group and 1.5 months (IQR, 0.6-5.7) for controls. After IPTW, CSE was associated with a shorter time to full oral feeding, with a weighted hazard ratio of 2.26 [95% confidence interval (CI), 1.21 to 4.24]. LAZ growth curves significantly differed between groups (P = 0.001).
Conclusion: CSE was associated with the expedited achievement of full oral feeding and a more favorable growth pattern before 3 years of age.
{"title":"Impact of serial clinical swallow evaluations and feeding interventions on growth and feeding outcomes in children with long-gap esophageal atresia after anastomosis: a retrospective cohort study.","authors":"Jun-Li Wang, Run-Qi Huang, Chun-Yan Tang, Wen-Jie Wu, Fei Li, Tai Ren, Jun Wang, Wei-Hua Pan","doi":"10.1007/s12519-024-00850-x","DOIUrl":"10.1007/s12519-024-00850-x","url":null,"abstract":"<p><strong>Background: </strong>Children undergoing surgical anastomosis for long-gap esophageal atresia (LGEA) often suffer from complications related to delayed oral feeding, which may impair their early development. Clinical swallow evaluation (CSE) is an effective technique to improve feeding outcomes. However, there are limited evidences on the application of CSE in these children.</p><p><strong>Methods: </strong>Since 2020, serial CSEs have been consistently implemented for children undergoing anastomosis for LGEA in our hospital. We conducted a retrospective study comparing 19 children who received CSE with 31 historical controls who did not. Inverse probability of treatment weighting (IPTW) was applied to balance preoperative characteristics. We compared the time from surgery to full oral feeding and the rate of postoperative complications between the two groups. Growth curves for length-for-age Z score (LAZ) and weight-for-age Z score (WAZ) up to age 3 were fitted using generalized additive mixed models.</p><p><strong>Results: </strong>The median time to full oral feeding was 1.1 months [interquartile range (IQR), 0.8-2.4] in the CSE group and 1.5 months (IQR, 0.6-5.7) for controls. After IPTW, CSE was associated with a shorter time to full oral feeding, with a weighted hazard ratio of 2.26 [95% confidence interval (CI), 1.21 to 4.24]. LAZ growth curves significantly differed between groups (P = 0.001).</p><p><strong>Conclusion: </strong>CSE was associated with the expedited achievement of full oral feeding and a more favorable growth pattern before 3 years of age.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":"1293-1305"},"PeriodicalIF":6.1,"publicationDate":"2024-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11634968/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142628844","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-11-28DOI: 10.1007/s12519-024-00856-5
Melissa Cole, Narong Simakajornboon
Background: Sleep-related movement disorders (SRMDs), such as restless legs syndrome (RLS) and periodic limb movement disorder (PLMD), are common in pediatric sleep practice. There is increasing literature on RLS, PLMD, and a newly described sleep disorder called "restless sleep disorder (RSD)". We aimed to review and provide recent updates on SRMDs.
Data sources: A comprehensive search for relevant English-language peer-reviewed publications focused on three common SRMDs, namely, RLS, PLMD and RSD, in a variety of indices in PubMed and SCOPUS. Both relevant databases and systematic reviews are included.
Results: SRMDs, especially RLS and PLMD, are common in children and adolescents. However, they are underrecognized. Genetics, abnormal dopaminergic functions, and iron deficiency are the main pathophysiologies of RLS and PLMD. RLS and RSD may share common pathophysiologic mechanisms, as evidenced by low iron stores in both conditions. The diagnoses of RLS, PLMD, and RSD require specific clinical criteria and polysomnographic features. Several comorbid conditions have been associated with RLS, PLMD, and RSD. Iron therapy has been shown to be effective for treating RLS, PLMD, and RSD. There is increasing evidence on the effectiveness of specific medications in children with RLS and PLMD, but the data are still limited.
Conclusions: This review summarizes the pathophysiology, clinical manifestations, diagnostic criteria, and management of RLS, PLMD, and RSD in children based on relevant and recent literature. It is important for pediatricians to recognize the clinical presentation of RLS, PLMD, and RSD to facilitate early diagnosis. Further studies are needed to examine the pathogenesis, long-term consequences, and pharmacologic therapy of RSD in children.
{"title":"Sleep-related movement disorders in children: recent updates.","authors":"Melissa Cole, Narong Simakajornboon","doi":"10.1007/s12519-024-00856-5","DOIUrl":"https://doi.org/10.1007/s12519-024-00856-5","url":null,"abstract":"<p><strong>Background: </strong>Sleep-related movement disorders (SRMDs), such as restless legs syndrome (RLS) and periodic limb movement disorder (PLMD), are common in pediatric sleep practice. There is increasing literature on RLS, PLMD, and a newly described sleep disorder called \"restless sleep disorder (RSD)\". We aimed to review and provide recent updates on SRMDs.</p><p><strong>Data sources: </strong>A comprehensive search for relevant English-language peer-reviewed publications focused on three common SRMDs, namely, RLS, PLMD and RSD, in a variety of indices in PubMed and SCOPUS. Both relevant databases and systematic reviews are included.</p><p><strong>Results: </strong>SRMDs, especially RLS and PLMD, are common in children and adolescents. However, they are underrecognized. Genetics, abnormal dopaminergic functions, and iron deficiency are the main pathophysiologies of RLS and PLMD. RLS and RSD may share common pathophysiologic mechanisms, as evidenced by low iron stores in both conditions. The diagnoses of RLS, PLMD, and RSD require specific clinical criteria and polysomnographic features. Several comorbid conditions have been associated with RLS, PLMD, and RSD. Iron therapy has been shown to be effective for treating RLS, PLMD, and RSD. There is increasing evidence on the effectiveness of specific medications in children with RLS and PLMD, but the data are still limited.</p><p><strong>Conclusions: </strong>This review summarizes the pathophysiology, clinical manifestations, diagnostic criteria, and management of RLS, PLMD, and RSD in children based on relevant and recent literature. It is important for pediatricians to recognize the clinical presentation of RLS, PLMD, and RSD to facilitate early diagnosis. Further studies are needed to examine the pathogenesis, long-term consequences, and pharmacologic therapy of RSD in children.</p>","PeriodicalId":23883,"journal":{"name":"World Journal of Pediatrics","volume":" ","pages":""},"PeriodicalIF":6.1,"publicationDate":"2024-11-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142740071","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":2,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}