Pub Date : 2024-10-17eCollection Date: 2024-01-01DOI: 10.3389/fped.2024.1482720
Katarzyna Pawińska-Wąsikowska, Małgorzata Czogała, Karolina Bukowska-Strakova, Marta Surman, Monika Rygielska, Teofila Książek, Beata Sadowska, Agnieszka Pac, Jolanta Skalska-Sadowska, Magdalena Samborska, Jacek Wachowiak, Małgorzata Ciebiera, Radosław Chaber, Renata Tomaszewska, Tomasz Szczepański, Karolina Zielezińska, Tomasz Urasiński, Anna Rodziewicz-Konarska, Krzysztof Kałwak, Marta Kozłowska, Ninela Irga-Jaworska, Barbara Sikorska-Fic, Bartosz Chyżyński, Paweł Łaguna, Katarzyna Muszyńska-Rosłan, Maryna Krawczuk-Rybak, Paulina Deleszkiewicz, Katarzyna Drabko, Katarzyna Bobeff, Wojciech Młynarski, Agnieszka Chodała-Grzywacz, Grażyna Karolczyk, Katarzyna Mycko, Wanda Badowska, Natalia Bartoszewicz, Jan Styczyński, Katarzyna Machnik, Weronika Stolpa, Agnieszka Mizia-Malarz, Walentyna Balwierz, Szymon Skoczeń
Background: A personalised approach to the treatment of acute myeloid leukemia (AML) in children and adolescents, as well as the development of supportive therapies, has significantly improved survival. Despite this, some patients still die before starting treatment or in an early phase of therapy before achieving remission. The study analysed the frequency, clinical features and risk factors for early deaths (ED) and treatment related deaths (TRD) of children and adolescents with AML.
Methods: From January 2005 to November 2023, 646 children with AML treated in the centers of the Polish Pediatric Leukemia and Lymphoma Study Group according to three subsequent therapeutic protocols were evaluated: AML-BFM 2004 Interim (385 children), AML-BFM 2012 Registry (131 children) and AML-BFM 2019 (130 children).
Results: Out of 646 children, early death occurred in 30 children, including 15 girls. The median age was 10.7 years (1 day to 18 years). More than half of the patients (53%) were diagnosed with acute myelomonocytic leukemia (M5) and 13% with acute promyelocytic leukemia (M3). The ED rate for the three consecutive AML-BFM protocols was 4.9% vs. 5.3% vs. 3.1%, respectively. In 19 patients, death occurred before the 15th day of treatment, in 11 between the 15th and 42nd day. The most common cause of death before the 15th day (ED15) was leukostasis and bleeding, whereas between the 15th and 42nd day (ED15-42), infections, mainly bacterial sepsis. A significant association was found between ED15 and high leukocyte count (>10 × 109/L), M3 leukemia (p < 0.001), and ED15-42 and age <1 year (p = 0.029). In the univariate analysis only initial high leukocyte count >100 × 109/L, was a significant predictor of early death. The overall TRD for the entire study period was 3.4%. The main cause of death were infections, mainly bacterial sepsis (10 children out of 22, 45.4%).
Conclusions: Hyperleukocytosis remains significant factor of early mortality in patients with AML, despite the introduction of various cytoreductive methods. Infections are still the main cause of treatment related deaths. A more individualized approach by using new targeted drugs may be the therapeutic option of choice in the future.
{"title":"Analysis of early and treatment related deaths among children and adolescents with acute myeloid leukemia in Poland: 2005-2023.","authors":"Katarzyna Pawińska-Wąsikowska, Małgorzata Czogała, Karolina Bukowska-Strakova, Marta Surman, Monika Rygielska, Teofila Książek, Beata Sadowska, Agnieszka Pac, Jolanta Skalska-Sadowska, Magdalena Samborska, Jacek Wachowiak, Małgorzata Ciebiera, Radosław Chaber, Renata Tomaszewska, Tomasz Szczepański, Karolina Zielezińska, Tomasz Urasiński, Anna Rodziewicz-Konarska, Krzysztof Kałwak, Marta Kozłowska, Ninela Irga-Jaworska, Barbara Sikorska-Fic, Bartosz Chyżyński, Paweł Łaguna, Katarzyna Muszyńska-Rosłan, Maryna Krawczuk-Rybak, Paulina Deleszkiewicz, Katarzyna Drabko, Katarzyna Bobeff, Wojciech Młynarski, Agnieszka Chodała-Grzywacz, Grażyna Karolczyk, Katarzyna Mycko, Wanda Badowska, Natalia Bartoszewicz, Jan Styczyński, Katarzyna Machnik, Weronika Stolpa, Agnieszka Mizia-Malarz, Walentyna Balwierz, Szymon Skoczeń","doi":"10.3389/fped.2024.1482720","DOIUrl":"10.3389/fped.2024.1482720","url":null,"abstract":"<p><strong>Background: </strong>A personalised approach to the treatment of acute myeloid leukemia (AML) in children and adolescents, as well as the development of supportive therapies, has significantly improved survival. Despite this, some patients still die before starting treatment or in an early phase of therapy before achieving remission. The study analysed the frequency, clinical features and risk factors for early deaths (ED) and treatment related deaths (TRD) of children and adolescents with AML.</p><p><strong>Methods: </strong>From January 2005 to November 2023, 646 children with AML treated in the centers of the Polish Pediatric Leukemia and Lymphoma Study Group according to three subsequent therapeutic protocols were evaluated: AML-BFM 2004 Interim (385 children), AML-BFM 2012 Registry (131 children) and AML-BFM 2019 (130 children).</p><p><strong>Results: </strong>Out of 646 children, early death occurred in 30 children, including 15 girls. The median age was 10.7 years (1 day to 18 years). More than half of the patients (53%) were diagnosed with acute myelomonocytic leukemia (M5) and 13% with acute promyelocytic leukemia (M3). The ED rate for the three consecutive AML-BFM protocols was 4.9% vs. 5.3% vs. 3.1%, respectively. In 19 patients, death occurred before the 15th day of treatment, in 11 between the 15th and 42nd day. The most common cause of death before the 15th day (ED15) was leukostasis and bleeding, whereas between the 15th and 42nd day (ED15-42), infections, mainly bacterial sepsis. A significant association was found between ED15 and high leukocyte count (>10 × 10<sup>9</sup>/L), M3 leukemia (<i>p</i> < 0.001), and ED15-42 and age <1 year (<i>p</i> = 0.029). In the univariate analysis only initial high leukocyte count >100 × 10<sup>9</sup>/L, was a significant predictor of early death. The overall TRD for the entire study period was 3.4%. The main cause of death were infections, mainly bacterial sepsis (10 children out of 22, 45.4%).</p><p><strong>Conclusions: </strong>Hyperleukocytosis remains significant factor of early mortality in patients with AML, despite the introduction of various cytoreductive methods. Infections are still the main cause of treatment related deaths. A more individualized approach by using new targeted drugs may be the therapeutic option of choice in the future.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1482720"},"PeriodicalIF":2.1,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11524810/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557740","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}
Pub Date : 2024-10-17eCollection Date: 2024-01-01DOI: 10.3389/fped.2024.1468635
Andrey Marakhonov, Anna Mukhina, Elena Vlasova, Irina Efimova, Natalya Balinova, Yulia Rodina, Dmitry Pershin, Zhanna Markova, Marina Minzhenkova, Nadezhda Shilova, Dzhaina Mudaeva, Djamila Saydaeva, Taisiya Irbaieva, Svetlana Matulevich, Elena Belyashova, Grigoriy Yakubovskiy, Inna Tebieva, Yulia Gabisova, Murat Ikaev, Nataliya Irinina, Liya Nurgalieva, Elena Saifullina, Tatiana Belyaeva, Olga Romanova, Sergey Voronin, Rena Zinchenko, Anna Shcherbina, Sergey Kutsev
Newborn screening (NBS) for severe combined immunodeficiency (SCID) has been widely implemented to enable early detection and intervention. Trisomy 21, commonly known as Down syndrome (DS), poses unique challenges in NBS due to its frequent association with T and/or B cell lymphopenia. The pilot NBS screening program recently conducted in Russia was aimed to identify both severe T and B cell deficiencies by measuring TREC and KREC. This study aims to evaluate the incidence of DS in newborns who participated in the pilot program, assess their TREC and KREC values, and determine the proportion of DS newborns potentially identifiable through T/B lymphopenia NBS. We conducted a retrospective analysis of the data obtained during the pilot NBS program, involving 202,908 newborns from eight regions of Russia. The study identified 157 patients with trisomy 21 among the screened cohort, resulting in a DS birth prevalence of 1:1,284. Median TREC and KREC values did not significantly differ between full-term and pre-term subgroups of DS patients. TREC values in DS newborns were decreased and comparable to those of the extremely preterm newborns. DS newborns also demonstrated significant differences in KREC values as compared to the general cohort regardless of gestational age. Our data suggests abnormalities of T- and B-cell lineages development and requires further investigation. This article highlights the need for increased awareness of the intrinsic immunological defects associated with DS. The findings underscore the importance of continued follow-up and comprehensive support by healthcare teams for individuals with DS.
{"title":"Decreased TREC and KREC levels in newborns with trisomy 21.","authors":"Andrey Marakhonov, Anna Mukhina, Elena Vlasova, Irina Efimova, Natalya Balinova, Yulia Rodina, Dmitry Pershin, Zhanna Markova, Marina Minzhenkova, Nadezhda Shilova, Dzhaina Mudaeva, Djamila Saydaeva, Taisiya Irbaieva, Svetlana Matulevich, Elena Belyashova, Grigoriy Yakubovskiy, Inna Tebieva, Yulia Gabisova, Murat Ikaev, Nataliya Irinina, Liya Nurgalieva, Elena Saifullina, Tatiana Belyaeva, Olga Romanova, Sergey Voronin, Rena Zinchenko, Anna Shcherbina, Sergey Kutsev","doi":"10.3389/fped.2024.1468635","DOIUrl":"10.3389/fped.2024.1468635","url":null,"abstract":"<p><p>Newborn screening (NBS) for severe combined immunodeficiency (SCID) has been widely implemented to enable early detection and intervention. Trisomy 21, commonly known as Down syndrome (DS), poses unique challenges in NBS due to its frequent association with T and/or B cell lymphopenia. The pilot NBS screening program recently conducted in Russia was aimed to identify both severe T and B cell deficiencies by measuring TREC and KREC. This study aims to evaluate the incidence of DS in newborns who participated in the pilot program, assess their TREC and KREC values, and determine the proportion of DS newborns potentially identifiable through T/B lymphopenia NBS. We conducted a retrospective analysis of the data obtained during the pilot NBS program, involving 202,908 newborns from eight regions of Russia. The study identified 157 patients with trisomy 21 among the screened cohort, resulting in a DS birth prevalence of 1:1,284. Median TREC and KREC values did not significantly differ between full-term and pre-term subgroups of DS patients. TREC values in DS newborns were decreased and comparable to those of the extremely preterm newborns. DS newborns also demonstrated significant differences in KREC values as compared to the general cohort regardless of gestational age. Our data suggests abnormalities of T- and B-cell lineages development and requires further investigation. This article highlights the need for increased awareness of the intrinsic immunological defects associated with DS. The findings underscore the importance of continued follow-up and comprehensive support by healthcare teams for individuals with DS.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1468635"},"PeriodicalIF":2.1,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11526121/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557743","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}
Pub Date : 2024-10-17eCollection Date: 2024-01-01DOI: 10.3389/fped.2024.1457645
Congyi Dai, Wenting Ji, Yufei Zhang, Weichun Huang, Haiying Wang, Xing Wang
Objective: Methicillin-resistant Staphylococcus aureus (MRSA) infection in children has been on the rise, which poses a serious threat to their health and life in China. The purpose of this study was to determine the molecular characteristics, risk factors, and clinical outcomes of MRSA infections among critically ill pediatric patients.
Methods: A retrospective case-control study was performed in the pediatric intensive care unit (PICU) of a tertiary university teaching hospital. All children infected with culture-positive S. aureus in the PICU between January 2016 and December 2021 were included. Univariate and multivariable logistic regression analyses were used to identify potential risk factors for MRSA infection and clinical outcomes of S. aureus infection. All S. aureus isolates were characterized based on antimicrobial resistance, multilocus sequence typing (MLST) and Staphylococcal protein A (spa) typing.
Results: Of 3,974 patients admitted to the PICU, 280 were diagnosed with a S. aureus infection during the 6-year study period. Among them, 43.2% (121/280) were MRSA. All MRSA isolates showed significantly higher rates of resistance to penicillin, erythromycin, clindamycin and tetracycline than MSSA strains. The MRSA strains consisted of 45 spa types and 20 sequence types (STs) (20 clonal complexes), among which the most frequently represented were ST59-t437and ST398-t034. Multivariable logistic regression revealed vaginal delivery, respiratory failure, co-infection with a virus, C-reactive protein (CRP) > 8 mg/L as significant risk factors for MRSA infection. There was no significant difference in all-cause mortality during hospitalization between the MRSA group and the MSSA group. Furthermore, independent predictors for mortality in patients with S. aureus infections were the presence of hypoproteinemia, hematopathy, septic shock, respiratory failure, fever, and white blood cell (WBC) > 15.0 × 109/L.
Conclusions: The study revealed a high proportion of MRSA infections among critically ill pediatric patients, and found significant risk factors for MRSA infection and poor prognosis of S. aureus infection. Methicillin resistance did not contribute to the mortality in the current study. These findings will provide evidence-based practices to make the strategies of prevention and rational use of antibiotics for pediatric patients with S. aureus infection in the ICU.
{"title":"Molecular characteristics, risk factors, and clinical outcomes of methicillin-resistant <i>Staphylococcus aureus</i> infections among critically ill pediatric patients in Shanghai, 2016-2021.","authors":"Congyi Dai, Wenting Ji, Yufei Zhang, Weichun Huang, Haiying Wang, Xing Wang","doi":"10.3389/fped.2024.1457645","DOIUrl":"10.3389/fped.2024.1457645","url":null,"abstract":"<p><strong>Objective: </strong>Methicillin-resistant <i>Staphylococcus aureus</i> (MRSA) infection in children has been on the rise, which poses a serious threat to their health and life in China. The purpose of this study was to determine the molecular characteristics, risk factors, and clinical outcomes of MRSA infections among critically ill pediatric patients.</p><p><strong>Methods: </strong>A retrospective case-control study was performed in the pediatric intensive care unit (PICU) of a tertiary university teaching hospital. All children infected with culture-positive <i>S. aureus</i> in the PICU between January 2016 and December 2021 were included. Univariate and multivariable logistic regression analyses were used to identify potential risk factors for MRSA infection and clinical outcomes of <i>S. aureus</i> infection. All <i>S. aureus</i> isolates were characterized based on antimicrobial resistance, multilocus sequence typing (MLST) and Staphylococcal protein A (<i>spa</i>) typing.</p><p><strong>Results: </strong>Of 3,974 patients admitted to the PICU, 280 were diagnosed with a <i>S. aureus</i> infection during the 6-year study period. Among them, 43.2% (121/280) were MRSA. All MRSA isolates showed significantly higher rates of resistance to penicillin, erythromycin, clindamycin and tetracycline than MSSA strains. The MRSA strains consisted of 45 <i>spa</i> types and 20 sequence types (STs) (20 clonal complexes), among which the most frequently represented were ST59-t437and ST398-t034. Multivariable logistic regression revealed vaginal delivery, respiratory failure, co-infection with a virus, C-reactive protein (CRP) > 8 mg/L as significant risk factors for MRSA infection. There was no significant difference in all-cause mortality during hospitalization between the MRSA group and the MSSA group. Furthermore, independent predictors for mortality in patients with <i>S. aureus</i> infections were the presence of hypoproteinemia, hematopathy, septic shock, respiratory failure, fever, and white blood cell (WBC) > 15.0 × 10<sup>9</sup>/L.</p><p><strong>Conclusions: </strong>The study revealed a high proportion of MRSA infections among critically ill pediatric patients, and found significant risk factors for MRSA infection and poor prognosis of <i>S. aureus</i> infection. Methicillin resistance did not contribute to the mortality in the current study. These findings will provide evidence-based practices to make the strategies of prevention and rational use of antibiotics for pediatric patients with <i>S. aureus</i> infection in the ICU.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1457645"},"PeriodicalIF":2.1,"publicationDate":"2024-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11524809/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142557746","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}
Background: Emergence delirium (ED) is a widely recognized issue that prolongs mechanical ventilation and post-anesthesia care unit (PACU) resuscitation time, consequently increasing hospital costs and mortality. Postoperative disturbance in circadian rhythms, commonly leading to sleep disorders, has been identified as a significant risk factor for ED. However, the influence of surgery timing (morning vs. afternoon) on the incidence of ED in pediatric patients undergoing general anesthesia remains unknown.
Methods: Patients aged 2-6 years who were operated on under general anesthesia with a bispectral index value between 50 and 60 were categorized based on anesthesia start time into either the morning surgery group (Group M, 8:00-12:00) or the afternoon surgery group (Group A, 13:00-17:00). The primary outcome was the post-extubation incidence of ED assessed by the Cornell Assessment of Pediatric Delirium (CAPD) score. Secondary outcomes included extubation time, duration of PACU stay, and adverse postoperative events and complications.
Results: We recruited a total of 560 patients, 280 in group M and 280 in group A. Compared to Group M, Group A exhibited a significantly higher incidence of ED (p < 0.001), elevated CAPD scores (p < 0.001), and prolonged PACU stays (p < 0.001). Notably, there was no significant difference in extubation time and anesthesia-related adverse events or other postoperative complications between the groups.
Conclusion: Our study highlights that the time of surgery significantly affects the incidence of ED, CAPD scores, and PACU stay duration in children. Further validation of these findings may guide future strategies to reduce ED.
背景:谵妄(ED)是一个公认的问题,它会延长机械通气和麻醉后护理病房(PACU)的复苏时间,从而增加医院成本和死亡率。术后昼夜节律紊乱通常会导致睡眠失调,已被确定为引发急诊谵妄的重要风险因素。然而,手术时间(上午与下午)对接受全身麻醉的儿科患者 ED 发生率的影响仍然未知:方法:根据麻醉开始时间,将双频谱指数值在 50-60 之间的 2-6 岁全身麻醉手术患者分为上午手术组(M 组,8:00-12:00)或下午手术组(A 组,13:00-17:00)。主要结果是根据康奈尔儿童谵妄评估(CAPD)评分评估拔管后ED发生率。次要结果包括拔管时间、PACU停留时间以及术后不良事件和并发症:与 M 组相比,A 组的 ED 发生率明显更高(P P P P 结论:我们的研究强调了手术时间的重要性:我们的研究表明,手术时间对儿童 ED 发生率、CAPD 评分和 PACU 留观时间有重大影响。对这些发现的进一步验证可指导未来减少 ED 的策略。
{"title":"The impact of diurnal variations on emergence delirium following general anesthesia and surgery in children.","authors":"Wei Wei, Haihang Xie, Yingyi Xu, Jingwen Qin, Xinying Guo, Xingrong Song, Gaofeng Yu, Na Zhang, Daqing Ma, Yonghong Tan, Tianyun Zhao","doi":"10.3389/fped.2024.1437460","DOIUrl":"10.3389/fped.2024.1437460","url":null,"abstract":"<p><strong>Background: </strong>Emergence delirium (ED) is a widely recognized issue that prolongs mechanical ventilation and post-anesthesia care unit (PACU) resuscitation time, consequently increasing hospital costs and mortality. Postoperative disturbance in circadian rhythms, commonly leading to sleep disorders, has been identified as a significant risk factor for ED. However, the influence of surgery timing (morning vs. afternoon) on the incidence of ED in pediatric patients undergoing general anesthesia remains unknown.</p><p><strong>Methods: </strong>Patients aged 2-6 years who were operated on under general anesthesia with a bispectral index value between 50 and 60 were categorized based on anesthesia start time into either the morning surgery group (Group M, 8:00-12:00) or the afternoon surgery group (Group A, 13:00-17:00). The primary outcome was the post-extubation incidence of ED assessed by the Cornell Assessment of Pediatric Delirium (CAPD) score. Secondary outcomes included extubation time, duration of PACU stay, and adverse postoperative events and complications.</p><p><strong>Results: </strong>We recruited a total of 560 patients, 280 in group M and 280 in group A. Compared to Group M, Group A exhibited a significantly higher incidence of ED (<i>p</i> < 0.001), elevated CAPD scores (<i>p</i> < 0.001), and prolonged PACU stays (<i>p</i> < 0.001). Notably, there was no significant difference in extubation time and anesthesia-related adverse events or other postoperative complications between the groups.</p><p><strong>Conclusion: </strong>Our study highlights that the time of surgery significantly affects the incidence of ED, CAPD scores, and PACU stay duration in children. Further validation of these findings may guide future strategies to reduce ED.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1437460"},"PeriodicalIF":2.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11521803/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142550064","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}
Pub Date : 2024-10-16eCollection Date: 2024-01-01DOI: 10.3389/fped.2024.1460174
Qiang Zhang, Xiaoxiao Chen, Yanyan Cao, Yun Zhou, Yingye Liu, Lijun Liu, Lei Liu, Xiaowei Cui
Mixed gonadal dysgenesis is caused by a variety of chromosome abnormalities, most commonly Y chromosome mosaicism. An 8-year-old boy presented with short stature for possible treatment with recombinant growth hormone. He had a history of mixed gonadal dysgenesis (hypospadias, bilateral cryptorchidism, processus vaginalis, and dysplastic immature uterus) and a series of corrective surgeries. At 14 months of age, chromosomal karyotyping revealed 46,X,+mar. Upon presentation, lab testing was consistent with the male phenotype at prepuberty. Fluorescence in situ hybridization revealed 45,X[2]/46,X,der(Y).ish psu idic(Y)(q11.2)(SRY++,DYZ3++)[38] karyotype. A literature review identified eight case reports of mixed gonadal dysgenesis associated with 45,X/46,X,idic(Y)(q11.2). Neither sex phenotype nor short stature correlated with the 46,X,idic(Y)(q11.2) mosaic ratio.
{"title":"45,X[2]/46,X,der(Y).ish Psu idic(Y)(q11.2)[38] mosaic karyotype in mixed gonadal dysgenesis: a case report and literature review.","authors":"Qiang Zhang, Xiaoxiao Chen, Yanyan Cao, Yun Zhou, Yingye Liu, Lijun Liu, Lei Liu, Xiaowei Cui","doi":"10.3389/fped.2024.1460174","DOIUrl":"10.3389/fped.2024.1460174","url":null,"abstract":"<p><p>Mixed gonadal dysgenesis is caused by a variety of chromosome abnormalities, most commonly Y chromosome mosaicism. An 8-year-old boy presented with short stature for possible treatment with recombinant growth hormone. He had a history of mixed gonadal dysgenesis (hypospadias, bilateral cryptorchidism, processus vaginalis, and dysplastic immature uterus) and a series of corrective surgeries. At 14 months of age, chromosomal karyotyping revealed 46,X,+mar. Upon presentation, lab testing was consistent with the male phenotype at prepuberty. Fluorescence <i>in situ</i> hybridization revealed 45,X[2]/46,X,der(Y).ish psu idic(Y)(q11.2)(SRY++,DYZ3++)[38] karyotype. A literature review identified eight case reports of mixed gonadal dysgenesis associated with 45,X/46,X,idic(Y)(q11.2). Neither sex phenotype nor short stature correlated with the 46,X,idic(Y)(q11.2) mosaic ratio.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1460174"},"PeriodicalIF":2.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11521797/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545038","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}
Pub Date : 2024-10-16eCollection Date: 2024-01-01DOI: 10.3389/fped.2024.1460954
Fangming Deng, Wen Sun, Jiangwei Guo, Yujia Yang
Objective: By analyzing high readership articles from the Chinese Journal of Contemporary Pediatrics (CJCP) in the PubMed Central (PMC) database, this study aims to identify research hotspots and trends in the field of pediatrics.
Methods: Articles from the CJCP ranked by annual readership in PMC from 2021 to 2023 were collected. Using word frequency analysis and co-word analysis, the thematic characteristics of these articles were explored.
Results: The word frequency analysis and co-word analysis revealed four thematic directions that were of significant interest to researchers: (1) current public health or medical events such as COVID-19 and influenza; (2) mental health issues in children and adolescents; (3) pediatric neurological diseases and neurodevelopment; (4) diseases in preterm infants and newborns.
Conclusions: This study provides pediatric researchers with a valuable perspective to understand and grasp the development dynamics and future directions in the field of pediatrics.
{"title":"Research hotspots in pediatrics: co-word clustering analysis based on readership in PubMed Central.","authors":"Fangming Deng, Wen Sun, Jiangwei Guo, Yujia Yang","doi":"10.3389/fped.2024.1460954","DOIUrl":"10.3389/fped.2024.1460954","url":null,"abstract":"<p><strong>Objective: </strong>By analyzing high readership articles from the <i>Chinese Journal of Contemporary Pediatrics</i> (<i>CJCP</i>) in the PubMed Central (PMC) database, this study aims to identify research hotspots and trends in the field of pediatrics.</p><p><strong>Methods: </strong>Articles from the <i>CJCP</i> ranked by annual readership in PMC from 2021 to 2023 were collected. Using word frequency analysis and co-word analysis, the thematic characteristics of these articles were explored.</p><p><strong>Results: </strong>The word frequency analysis and co-word analysis revealed four thematic directions that were of significant interest to researchers: (1) current public health or medical events such as COVID-19 and influenza; (2) mental health issues in children and adolescents; (3) pediatric neurological diseases and neurodevelopment; (4) diseases in preterm infants and newborns.</p><p><strong>Conclusions: </strong>This study provides pediatric researchers with a valuable perspective to understand and grasp the development dynamics and future directions in the field of pediatrics.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1460954"},"PeriodicalIF":2.1,"publicationDate":"2024-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11521849/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545042","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}
Pub Date : 2024-10-15eCollection Date: 2024-01-01DOI: 10.3389/fped.2024.1484221
Chun-Ting Lin, Kai-Sheng Hsieh
{"title":"Editorial: Ethnic differences in children in the clinical manifestation of infection with SARS-Cov-2 and its variants.","authors":"Chun-Ting Lin, Kai-Sheng Hsieh","doi":"10.3389/fped.2024.1484221","DOIUrl":"https://doi.org/10.3389/fped.2024.1484221","url":null,"abstract":"","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1484221"},"PeriodicalIF":2.1,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11518798/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545039","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}
Pub Date : 2024-10-15eCollection Date: 2024-01-01DOI: 10.3389/fped.2024.1440322
Sun Le-le, Zhao Qun, Qi Lei, Meng Xiangwei, Si Jigang
Background: When it comes to the adverse reactions of linezolid, people always call to mind primarily nausea, vomiting, bone marrow suppression, and so on. Few people are aware of the rare adverse reaction of teeth discoloration.
Case presentation: We describe the case of a child affected by bacterial meningitis. After admission, a combination of ceftriaxone and linezolid was administered for anti-infection, and dexamethasone was used to inhibit inflammatory reactions. On the 5th day of treatment with linezolid, the child's teeth appeared brownish color and could not be removed with normal oral hygiene. Upon reviewing the drug instructions and literature, it was found that the discoloration of teeth is a rare adverse reaction of linezolid, which is pseudo discoloration. After stopping the medication for 28 days or up to 5 months, the normal color can be restored. There is no significant impact on the life of the patient, therefore, continue to use linezolid to complete the anti-infection course.
Results: After 14 days of anti-infection treatment, the inflammatory indicators of the child decreased to normal, and the condition was close to recovery before discharge. After stopping the medication for 28 days, the color of the teeth returned to normal.
Conclusions: This rare adverse reaction sheds light on a previously unreported side effect of this widely used antibiotic. In our case, the discoloration of the teeth occurred earlier, updating the latent period of the adverse reaction.
{"title":"Case Report: A case study and literature review on teeth discoloration caused by linezolid with the shortest incubation period in a pediatric patient.","authors":"Sun Le-le, Zhao Qun, Qi Lei, Meng Xiangwei, Si Jigang","doi":"10.3389/fped.2024.1440322","DOIUrl":"https://doi.org/10.3389/fped.2024.1440322","url":null,"abstract":"<p><strong>Background: </strong>When it comes to the adverse reactions of linezolid, people always call to mind primarily nausea, vomiting, bone marrow suppression, and so on. Few people are aware of the rare adverse reaction of teeth discoloration.</p><p><strong>Case presentation: </strong>We describe the case of a child affected by bacterial meningitis. After admission, a combination of ceftriaxone and linezolid was administered for anti-infection, and dexamethasone was used to inhibit inflammatory reactions. On the 5th day of treatment with linezolid, the child's teeth appeared brownish color and could not be removed with normal oral hygiene. Upon reviewing the drug instructions and literature, it was found that the discoloration of teeth is a rare adverse reaction of linezolid, which is pseudo discoloration. After stopping the medication for 28 days or up to 5 months, the normal color can be restored. There is no significant impact on the life of the patient, therefore, continue to use linezolid to complete the anti-infection course.</p><p><strong>Results: </strong>After 14 days of anti-infection treatment, the inflammatory indicators of the child decreased to normal, and the condition was close to recovery before discharge. After stopping the medication for 28 days, the color of the teeth returned to normal.</p><p><strong>Conclusions: </strong>This rare adverse reaction sheds light on a previously unreported side effect of this widely used antibiotic. In our case, the discoloration of the teeth occurred earlier, updating the latent period of the adverse reaction.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1440322"},"PeriodicalIF":2.1,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11518706/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142550062","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}
Pub Date : 2024-10-15eCollection Date: 2024-01-01DOI: 10.3389/fped.2024.1413096
Jin Huang, Chen Zhang, Jing Li, Huaming Wang, Xiaojuan Cui, Juan Wang, Borong Zhang, Xiaoqiang Wang, Deming Lin, Jun Zhao, Jiantao Wen
Nemaline myopathy (NM) is a rare congenital muscle disease that leads to muscle damage, resulting in muscle weakness and atrophy. Cases of scoliosis induced by muscle weakness and atrophy are exceedingly uncommon. The author clinically treated one patient with NM complicated by scoliosis and analyzed its clinical characteristics through a literature review. The pathogenic genes of this patient originated from compound heterozygous mutations c.12471 + 3A>G from the mother and c.7727G>A from the father, leading to the diagnosis of NM accompanied by scoliosis, which represents a relatively rare clinical phenotype.
{"title":"Nemaline myopathy with scoliosis: a case report.","authors":"Jin Huang, Chen Zhang, Jing Li, Huaming Wang, Xiaojuan Cui, Juan Wang, Borong Zhang, Xiaoqiang Wang, Deming Lin, Jun Zhao, Jiantao Wen","doi":"10.3389/fped.2024.1413096","DOIUrl":"https://doi.org/10.3389/fped.2024.1413096","url":null,"abstract":"<p><p>Nemaline myopathy (NM) is a rare congenital muscle disease that leads to muscle damage, resulting in muscle weakness and atrophy. Cases of scoliosis induced by muscle weakness and atrophy are exceedingly uncommon. The author clinically treated one patient with NM complicated by scoliosis and analyzed its clinical characteristics through a literature review. The pathogenic genes of this patient originated from compound heterozygous mutations c.12471 + 3A>G from the mother and c.7727G>A from the father, leading to the diagnosis of NM accompanied by scoliosis, which represents a relatively rare clinical phenotype.</p>","PeriodicalId":12637,"journal":{"name":"Frontiers in Pediatrics","volume":"12 ","pages":"1413096"},"PeriodicalIF":2.1,"publicationDate":"2024-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11518715/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142545041","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}