Tsz-Wing Yeung, Wilson Yau Ki Chan, S. C. Y. Wong, Pamela Pui Wah Lee, D. Cheuk, Wing Leung
With recent changes in hematopoietic stem cell transplantation (HSCT) practices, such as the increasing use of alternative donors and ex vivo T‐cell depletion, how various risk factors interplay and affect the timeline of infections have not been well elucidated. We retrospectively reviewed the first 100 consecutive HSCT from April 2019 to October 2021 in the only pediatric HSCT center in Hong Kong. We found that the vast majority of the allogeneic transplant recipients (69/74, 93.2%) had infections after HSCT, amongst which bacterial, viral, and fungal infection rates were 35.1%, 90.5%, and 9.5%, respectively. In contrast, only 30.8% (8/26) of autologous transplant recipients had infections (rate of bacterial, viral, and fungal infection were 19.2%, 15.4%, and 3.8%, respectively). Human herpesvirus 6 (HHV‐6) and BK virus (BKV) typically occurred early after HSCT, adenovirus (ADV) and varicella zoster virus (VZV) thereafter, and cytomegalovirus (CMV) and Epstein–Barr virus (EBV) throughout the entire 2.5‐year observation period. Ex vivo T‐cell depletion was a general risk factor for viral infection with HHV‐6 (hazard ratio [HR] = 3.03), BKV (HR = 3.36), CMV (HR = 4.45), and EBV (HR = 7.15); all p < 0.02. Cancer in second‐complete remission compared with first‐complete remission was a risk factor for bacterial infection (OR = 6.0, 95% CI = 1.12–32.2, and p = 0.037). Patients with gut graft‐versus‐host disease were at risk for fungal infections (OR = 12.3, 95% CI = 1.33–114.4, and p = 0.027). The infection‐related mortality rate was 10.0%, which occurred only in allogeneic HSCT patients with hematological malignancies receiving cord blood (n = 4) or haploidentical HSCT (n = 6). Collectively, our findings in pediatric patients after contemporary HSCT support both time‐dependent and risk‐adapted measures against infective complications to improve transplant outcome.
{"title":"High infection rates and risk‐adapted prevention strategies in contemporary pediatric allogeneic hematopoietic stem cell transplantation","authors":"Tsz-Wing Yeung, Wilson Yau Ki Chan, S. C. Y. Wong, Pamela Pui Wah Lee, D. Cheuk, Wing Leung","doi":"10.1002/pdi3.101","DOIUrl":"https://doi.org/10.1002/pdi3.101","url":null,"abstract":"With recent changes in hematopoietic stem cell transplantation (HSCT) practices, such as the increasing use of alternative donors and ex vivo T‐cell depletion, how various risk factors interplay and affect the timeline of infections have not been well elucidated. We retrospectively reviewed the first 100 consecutive HSCT from April 2019 to October 2021 in the only pediatric HSCT center in Hong Kong. We found that the vast majority of the allogeneic transplant recipients (69/74, 93.2%) had infections after HSCT, amongst which bacterial, viral, and fungal infection rates were 35.1%, 90.5%, and 9.5%, respectively. In contrast, only 30.8% (8/26) of autologous transplant recipients had infections (rate of bacterial, viral, and fungal infection were 19.2%, 15.4%, and 3.8%, respectively). Human herpesvirus 6 (HHV‐6) and BK virus (BKV) typically occurred early after HSCT, adenovirus (ADV) and varicella zoster virus (VZV) thereafter, and cytomegalovirus (CMV) and Epstein–Barr virus (EBV) throughout the entire 2.5‐year observation period. Ex vivo T‐cell depletion was a general risk factor for viral infection with HHV‐6 (hazard ratio [HR] = 3.03), BKV (HR = 3.36), CMV (HR = 4.45), and EBV (HR = 7.15); all p < 0.02. Cancer in second‐complete remission compared with first‐complete remission was a risk factor for bacterial infection (OR = 6.0, 95% CI = 1.12–32.2, and p = 0.037). Patients with gut graft‐versus‐host disease were at risk for fungal infections (OR = 12.3, 95% CI = 1.33–114.4, and p = 0.027). The infection‐related mortality rate was 10.0%, which occurred only in allogeneic HSCT patients with hematological malignancies receiving cord blood (n = 4) or haploidentical HSCT (n = 6). Collectively, our findings in pediatric patients after contemporary HSCT support both time‐dependent and risk‐adapted measures against infective complications to improve transplant outcome.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":"57 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141649546","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Silvia J. Galvis‐Blanco, Víctor A. Martínez‐Moreno, Olga L. Morales‐Múnera, Alejandra Wilches‐Luna, Claudia L. Losada‐Gómez, Silvia Palacio‐Petri, Ángela M. Castañeda‐Agudelo, Janeth Rosero‐Vélez, Leidy J. Torres‐Pérez, Laura F. Niño‐Serna
Multidisciplinary clinics bring together multiple specialists to care for patients with complex diseases, such as swallowing disorders. Little information exists regarding dysphagia in pediatric patients and its multidisciplinary management in Colombia. This study aimed to characterize patients under the age of 18 with swallowing disorders treated in a multidisciplinary dysphagia clinic at San Vicente Fundacion Hospital in Medellin, Colombia, between 2014 and 2021. A longitudinal, descriptive, observational study with retrospective data collection was conducted. Sociodemographic and clinical data were obtained at three points. A total of 293 patients were included. The most frequent underlying diseases were neurological (mainly cerebral palsy), followed by genetic disorders, with Down syndrome being the most representative. More than 50% of the patients had been hospitalized at least twice for dysphagia. The diagnosis was primarily clinical, supported by a videofluoroscopic swallowing study. The primary prescribed intervention was speech therapy, followed by an alternate feeding route. This study described pediatric patients with swallowing disorders seen in a multidisciplinary clinic. This overview provides healthcare personnel with an understanding of the complexity of swallowing disorders and their relationships to various medical conditions in children.
{"title":"Improved outcomes of pediatric patients with swallowing disorders through a multidisciplinary dysphagia clinic in a tertiary care children's hospital in Colombia","authors":"Silvia J. Galvis‐Blanco, Víctor A. Martínez‐Moreno, Olga L. Morales‐Múnera, Alejandra Wilches‐Luna, Claudia L. Losada‐Gómez, Silvia Palacio‐Petri, Ángela M. Castañeda‐Agudelo, Janeth Rosero‐Vélez, Leidy J. Torres‐Pérez, Laura F. Niño‐Serna","doi":"10.1002/pdi3.99","DOIUrl":"https://doi.org/10.1002/pdi3.99","url":null,"abstract":"Multidisciplinary clinics bring together multiple specialists to care for patients with complex diseases, such as swallowing disorders. Little information exists regarding dysphagia in pediatric patients and its multidisciplinary management in Colombia. This study aimed to characterize patients under the age of 18 with swallowing disorders treated in a multidisciplinary dysphagia clinic at San Vicente Fundacion Hospital in Medellin, Colombia, between 2014 and 2021. A longitudinal, descriptive, observational study with retrospective data collection was conducted. Sociodemographic and clinical data were obtained at three points. A total of 293 patients were included. The most frequent underlying diseases were neurological (mainly cerebral palsy), followed by genetic disorders, with Down syndrome being the most representative. More than 50% of the patients had been hospitalized at least twice for dysphagia. The diagnosis was primarily clinical, supported by a videofluoroscopic swallowing study. The primary prescribed intervention was speech therapy, followed by an alternate feeding route. This study described pediatric patients with swallowing disorders seen in a multidisciplinary clinic. This overview provides healthcare personnel with an understanding of the complexity of swallowing disorders and their relationships to various medical conditions in children.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":"15 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141659430","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
The transcription factor SOX9 is crucial in the development and differentiation of various tissues and cells. However, the roles of SOX9‐dependent genes and pathways in normal urethral development and the mechanism of hypospadias are unclear. This study collected 15 foreskin tissue specimens from patients who underwent hypospadias repair surgery and compared them to normal foreskin tissue specimens obtained during circumcision. The expression levels of SOX9, WNT signaling pathway markers, and epithelial‐mesenchymal transition (EMT) markers were analyzed in both groups. It was found that mRNA and protein levels of SOX9, WNT signaling pathway, and EMT mesenchymal markers were significantly reduced in the hypospadias group compared to the normal foreskin group. In contrast, mRNA and protein levels of epithelial markers were significantly increased in the hypospadias group. Immunofluorescence confirmed the decrease in SOX9 expression. Experiments using siRNA to inhibit SOX9 expression in foreskin fibroblasts yielded similar results to the hypospadias group. The findings suggest that down‐regulation of SOX9 expression may contribute to the development of hypospadias by down‐regulating the WNT pathway and inhibiting EMT. These findings provide new insights into the embryonic development of the urethra.
{"title":"SOX9 regulates epithelial‐mesenchymal transformation by mediating the Wnt/β‐catenin signaling pathway in hypospadias","authors":"Xueyu He, Zhicheng Zhang, Zhenmin Liu, Qiang Zhang, Chun-lan Long, Lianju Shen, Guanghui Wei, Xing Liu","doi":"10.1002/pdi3.94","DOIUrl":"https://doi.org/10.1002/pdi3.94","url":null,"abstract":"The transcription factor SOX9 is crucial in the development and differentiation of various tissues and cells. However, the roles of SOX9‐dependent genes and pathways in normal urethral development and the mechanism of hypospadias are unclear. This study collected 15 foreskin tissue specimens from patients who underwent hypospadias repair surgery and compared them to normal foreskin tissue specimens obtained during circumcision. The expression levels of SOX9, WNT signaling pathway markers, and epithelial‐mesenchymal transition (EMT) markers were analyzed in both groups. It was found that mRNA and protein levels of SOX9, WNT signaling pathway, and EMT mesenchymal markers were significantly reduced in the hypospadias group compared to the normal foreskin group. In contrast, mRNA and protein levels of epithelial markers were significantly increased in the hypospadias group. Immunofluorescence confirmed the decrease in SOX9 expression. Experiments using siRNA to inhibit SOX9 expression in foreskin fibroblasts yielded similar results to the hypospadias group. The findings suggest that down‐regulation of SOX9 expression may contribute to the development of hypospadias by down‐regulating the WNT pathway and inhibiting EMT. These findings provide new insights into the embryonic development of the urethra.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":"56 17","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141663094","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Lingxin Feng, Xu Zhu, Xiaojuan Ji, Hui‐ru Zhu, T. Ran, Haiyan Yang
This study explored the value of routine transthoracic echocardiography (TTE) combined with two‐dimensional speckle tracking echocardiography (2D‐STE) for the early evaluation of left ventricular remodeling in the hypertensive immature rabbit model. Twenty‐seven New Zealand white rabbits were divided into Group A (sham‐operated group), Group B (mild group), and Group C (severe group), with 9 rabbits per group. The hypertension model was constructed using the “two kidneys one clip” method. Changes in left ventricular function and the degree of left ventricular wall thickening were observed by TTE at 1, 4, and 8 weeks after modeling. The global longitudinal strain (GLS‐AVG, GLS‐A4C, GLS‐A2C, and GLS‐LAX) of the left ventricle (LV) and the longitudinal strain (LS) of the 18 segments of left ventricular myocardium were analyzed using 2D‐STE. Concurrently, LV myocardial tissue was sampled for HE staining and Masson staining. Receiver operating characteristic (ROC) curves were plotted to evaluate the accuracy of 2D‐STE parameters in predicting myocardial fibrosis. The model group exhibited varying degrees of left ventricular remodeling. GLS‐A4C, GLS‐A2C, GLS‐LAX, and GLS‐AVG in the model group increased at 1 week after modeling (P < 0.01), with LS abnormalities concentrated in the apical segments. GLS‐AVG showed a significant positive correlation with both IVSd and CVF (P < 0.01). The area under the curve (AUC) values of GLS‐AVG, GLS‐A4C, GLS‐A2C, and GLS‐LAX were 0.850, 0.827, 0.839, and 0.800, respectively. This study demonstrates the promise of TTE combined with 2D‐STE for the early and comprehensive evaluation of left ventricular myocardial damage in hypertensive children in the clinical setting.
{"title":"Assessing early left ventricular remodeling in pediatric hypertension: A study using transthoracic echocardiography combined with two‐dimensional speckle tracking echocardiography in an immature rabbit model","authors":"Lingxin Feng, Xu Zhu, Xiaojuan Ji, Hui‐ru Zhu, T. Ran, Haiyan Yang","doi":"10.1002/pdi3.92","DOIUrl":"https://doi.org/10.1002/pdi3.92","url":null,"abstract":"This study explored the value of routine transthoracic echocardiography (TTE) combined with two‐dimensional speckle tracking echocardiography (2D‐STE) for the early evaluation of left ventricular remodeling in the hypertensive immature rabbit model. Twenty‐seven New Zealand white rabbits were divided into Group A (sham‐operated group), Group B (mild group), and Group C (severe group), with 9 rabbits per group. The hypertension model was constructed using the “two kidneys one clip” method. Changes in left ventricular function and the degree of left ventricular wall thickening were observed by TTE at 1, 4, and 8 weeks after modeling. The global longitudinal strain (GLS‐AVG, GLS‐A4C, GLS‐A2C, and GLS‐LAX) of the left ventricle (LV) and the longitudinal strain (LS) of the 18 segments of left ventricular myocardium were analyzed using 2D‐STE. Concurrently, LV myocardial tissue was sampled for HE staining and Masson staining. Receiver operating characteristic (ROC) curves were plotted to evaluate the accuracy of 2D‐STE parameters in predicting myocardial fibrosis. The model group exhibited varying degrees of left ventricular remodeling. GLS‐A4C, GLS‐A2C, GLS‐LAX, and GLS‐AVG in the model group increased at 1 week after modeling (P < 0.01), with LS abnormalities concentrated in the apical segments. GLS‐AVG showed a significant positive correlation with both IVSd and CVF (P < 0.01). The area under the curve (AUC) values of GLS‐AVG, GLS‐A4C, GLS‐A2C, and GLS‐LAX were 0.850, 0.827, 0.839, and 0.800, respectively. This study demonstrates the promise of TTE combined with 2D‐STE for the early and comprehensive evaluation of left ventricular myocardial damage in hypertensive children in the clinical setting.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":" 36","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141671015","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Research from the past has indicated a link between the risk of chronic kidney disease (CKD) and metabolic syndrome (MetS). It is yet unknown. Nevertheless, exactly how the dynamic process of declining renal function and metabolic syndrome are related. The study's purpose is to evaluate the causal relationship between MetS and the deterioration in kidney function using a Mendelian randomization (MR). Univariable and multivariable MR were applied to evaluate the causal relationships between MetS and its components with Rapid3, CKDi25, and CKD. The main source of MetS data was the GTC database, whose constituents came from extensive genome‐wide association research. The CKDGen Consortium provided data on dynamic changes in kidney function. Preliminary analysis was conducted using five different statistical techniques, including Inverse Variance Weighting and Weighted Median. Rucker's Q, MR‐Egger, and Cochran's Q test were used in sensitivity studies. In order to address reverse causality, the Steiger test was used. The IVW results showed Rapid3, CKDi25, and CKD all exhibited positive correlations with MetS. Rapid3, CKDi25, and CKD were found to have a positive causal relationship with SBP and WC, while DBP was also linked to an increased risk of Rapid3 and CKDi25. Even after accounting for other variables, MVMR analysis showed a correlation between WC and the drop in kidney function indices. MetS, together with its constituents WC, SBP, and DBP, are separate risk factors for the deterioration of renal function. However, the causal relationship between FBG, HDL, TG, and the decline in kidney function indicators remains uncertain.
{"title":"Causal association of metabolic syndrome with chronic kidney disease progression: A Mendelian randomization study","authors":"Qitong Guo, Meiling Chen, Yihang Yu, Ping Li, Xu Huang, Lianju Shen, Chun-lan Long, Xing Liu, Tao Lin, D. He, Guanghui Wei, Deying Zhang","doi":"10.1002/pdi3.93","DOIUrl":"https://doi.org/10.1002/pdi3.93","url":null,"abstract":"Research from the past has indicated a link between the risk of chronic kidney disease (CKD) and metabolic syndrome (MetS). It is yet unknown. Nevertheless, exactly how the dynamic process of declining renal function and metabolic syndrome are related. The study's purpose is to evaluate the causal relationship between MetS and the deterioration in kidney function using a Mendelian randomization (MR). Univariable and multivariable MR were applied to evaluate the causal relationships between MetS and its components with Rapid3, CKDi25, and CKD. The main source of MetS data was the GTC database, whose constituents came from extensive genome‐wide association research. The CKDGen Consortium provided data on dynamic changes in kidney function. Preliminary analysis was conducted using five different statistical techniques, including Inverse Variance Weighting and Weighted Median. Rucker's Q, MR‐Egger, and Cochran's Q test were used in sensitivity studies. In order to address reverse causality, the Steiger test was used. The IVW results showed Rapid3, CKDi25, and CKD all exhibited positive correlations with MetS. Rapid3, CKDi25, and CKD were found to have a positive causal relationship with SBP and WC, while DBP was also linked to an increased risk of Rapid3 and CKDi25. Even after accounting for other variables, MVMR analysis showed a correlation between WC and the drop in kidney function indices. MetS, together with its constituents WC, SBP, and DBP, are separate risk factors for the deterioration of renal function. However, the causal relationship between FBG, HDL, TG, and the decline in kidney function indicators remains uncertain.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":" 34","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141672590","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
This study aimed to establish a registry database of different treatment modalities for lower respiratory tract infections (LRTIs) in Chinese children, thereby filling gaps in knowledge on clinical characteristics, treatment modalities, and rational drug use in relation to LRTIs in Chinese children, and providing large amounts of continuous, complete, scientific, and objective clinical data, and an information exchange platform. Multicenter data from these children's clinical visits were collected, pooled, and analyzed using medical informatics and statistical techniques to explore their potential value. The database was preliminarily established and a real‐world study cohort was constructed based on a total of 4805 patients registered in this database. Pneumonia was identified as the most common type of LRTIs (72.44%), followed by acute bronchitis (20.71%). The mean age of the enrolled children with LRTIs was 3.26 ± 2.84 years, and boys accounted for 59.21% of the samples. Among the enrolled children, pneumonia and acute bronchitis had the highest incidence in children aged 1–3 years (27.44%) and those aged 3–6 years (34.16%), respectively. In this national, multicenter, observational database of LRTIs in children, the real‐world characteristics and treatment modalities for LRTIs in Chinese children are elucidated. This database will help improve the research efficiency of clinicians and facilitate the exploration of underlying clinical patterns in real‐world medical big data.
{"title":"Introduction to the database “efficacy of different treatment modalities for lower respiratory tract infections in children”","authors":"Yu Deng, Bing Hu, Yi Zou, Zhengxiu Luo, Guang-li Zhang, Jinhai Ma, Changshan Liu, Xiaoyan Dong, Huifen Zi, Chuangli Hao, Rongjun Lin, Xiangrong Zheng, Bingfei Li, Fenhua Chen, Mei Fang, Weimin Tian, Zhiqiang Zhuo, Deyu Zhao, Zhimin Chen, Yuejie Zheng, Jingyang Zheng, Yong Yin, Qiuyu Tang, Liqun Wu, Li Gu, Jinzhun Wu, Liyi He, T. Ai, Ning Wang, Minjun Zhang, Hailin Zhang, Hanmin Liu, Youxiang Zhang, Jianguo Hong, Zhiying Han, Yunbo Mo, Hongmei Qiao, Zhiliang Tian, Zengni Li, Q. Lu, Enmei Liu","doi":"10.1002/pdi3.79","DOIUrl":"https://doi.org/10.1002/pdi3.79","url":null,"abstract":"This study aimed to establish a registry database of different treatment modalities for lower respiratory tract infections (LRTIs) in Chinese children, thereby filling gaps in knowledge on clinical characteristics, treatment modalities, and rational drug use in relation to LRTIs in Chinese children, and providing large amounts of continuous, complete, scientific, and objective clinical data, and an information exchange platform. Multicenter data from these children's clinical visits were collected, pooled, and analyzed using medical informatics and statistical techniques to explore their potential value. The database was preliminarily established and a real‐world study cohort was constructed based on a total of 4805 patients registered in this database. Pneumonia was identified as the most common type of LRTIs (72.44%), followed by acute bronchitis (20.71%). The mean age of the enrolled children with LRTIs was 3.26 ± 2.84 years, and boys accounted for 59.21% of the samples. Among the enrolled children, pneumonia and acute bronchitis had the highest incidence in children aged 1–3 years (27.44%) and those aged 3–6 years (34.16%), respectively. In this national, multicenter, observational database of LRTIs in children, the real‐world characteristics and treatment modalities for LRTIs in Chinese children are elucidated. This database will help improve the research efficiency of clinicians and facilitate the exploration of underlying clinical patterns in real‐world medical big data.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":"1 10","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141684195","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Hongxia Zhang, Mingzhu Yu, Jingyu Chen, Caihui Hu, Yi Tang, Zhenzhen Zhao, Yifei Du, Jian Sun, Jianwu Zhou, Chao Yang, Xiao-bin Deng, Xiangru Kong
To provide a new minimally invasive treatment for children with benign thyroid nodules, and to provide clinical data for applying microwave ablation (MWA) to children. A retrospective analysis was conducted on the clinical data of 21 pediatric patients with benign thyroid nodules who underwent ultrasound‐guided MWA at the Children's Hospital affiliated with Chongqing Medical University from July 2022 to August 2023. The safety, clinical efficacy, volume reduction ratio and prognostic value of the treatment were evaluated. The participants were followed for at least 4 months (median 7 months, range 4–16 months). The average (range) ablation time for the 21 patients was only(233.90 ± 184.97) (40–660)seconds, with intraoperative bleeding less than 0.5 mL. No complications such as hoarseness, seizures or coughing during drinking water were observed after ablation treatment. All the participants' hormone reflecting thyroid function remained in the normal ranges after treatment. Besides, these hormones at 12 h after surgery and 1 month after surgery were not statistically different from those before surgery. Immediate postoperative ultrasound imaging showed a significant decrease in volume of benign thyroid nodules, the volume of nodules at 1 month postoperatively (M, 1.39), and the volume of nodules at 4 months postoperatively (M, 0.40) significantly smaller than that before surgery (M, 4.94). Ultrasound‐guided MWA is a new option for the treatment of benign thyroid nodules in children, with advantages such as minimal invasiveness, good clinical effect, high safety, little damage to thyroid function, short operation time, less intraoperative bleeding, low pain sensation and aesthetic appearance.
{"title":"Clinical analysis of ultrasound‐guided microwave ablation for pediatric thyroid nodules‐ a single center research","authors":"Hongxia Zhang, Mingzhu Yu, Jingyu Chen, Caihui Hu, Yi Tang, Zhenzhen Zhao, Yifei Du, Jian Sun, Jianwu Zhou, Chao Yang, Xiao-bin Deng, Xiangru Kong","doi":"10.1002/pdi3.98","DOIUrl":"https://doi.org/10.1002/pdi3.98","url":null,"abstract":"To provide a new minimally invasive treatment for children with benign thyroid nodules, and to provide clinical data for applying microwave ablation (MWA) to children. A retrospective analysis was conducted on the clinical data of 21 pediatric patients with benign thyroid nodules who underwent ultrasound‐guided MWA at the Children's Hospital affiliated with Chongqing Medical University from July 2022 to August 2023. The safety, clinical efficacy, volume reduction ratio and prognostic value of the treatment were evaluated. The participants were followed for at least 4 months (median 7 months, range 4–16 months). The average (range) ablation time for the 21 patients was only(233.90 ± 184.97) (40–660)seconds, with intraoperative bleeding less than 0.5 mL. No complications such as hoarseness, seizures or coughing during drinking water were observed after ablation treatment. All the participants' hormone reflecting thyroid function remained in the normal ranges after treatment. Besides, these hormones at 12 h after surgery and 1 month after surgery were not statistically different from those before surgery. Immediate postoperative ultrasound imaging showed a significant decrease in volume of benign thyroid nodules, the volume of nodules at 1 month postoperatively (M, 1.39), and the volume of nodules at 4 months postoperatively (M, 0.40) significantly smaller than that before surgery (M, 4.94). Ultrasound‐guided MWA is a new option for the treatment of benign thyroid nodules in children, with advantages such as minimal invasiveness, good clinical effect, high safety, little damage to thyroid function, short operation time, less intraoperative bleeding, low pain sensation and aesthetic appearance.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":"103 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141697260","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jinpeng Zhang, Jiannan Ma, Yuanyuan Luo, Si-qi Hong, Li Jiang, Tianyi Li
Mutations in the ERCC5 gene can lead to different clinical phenotypes, few articles have reported the clinical phenotypes in detail and explained the relationship between genotype and phenotype. The clinical data of cases with ERCC5 gene mutations diagnosed in our center and reported in previous studies were collected. The cases were divided into three groups based on phenotype; the differences of clinical manifestation and genotype among groups were analyzed. Genetic tests showed a complex heterozygous mutation of the ERCC5 gene with paternal C.402_C.403 (exon 4) insA (p.T135Nfs*28) and maternal C.1096 (exon 8) C > T (p.R366X.821) in our case. The gene mutation has not been reported and was predicted to seriously affect the protein structure. According to a review of 59 cases of ERCC5 mutations, cerebrooculofacioskeletal syndrome (COFS) occurred in 16 cases, XP in 19 cases, and XP/CS in 24 cases. The incidence of physical retardation, mental retardation, peripheral neuropathy, magnetic resonance abnormalities and fundus/vision abnormalities in XP/CS patients was significantly higher than that in XP patients. In addition, patients with the XP/CS phenotype were more prone to appearance abnormalities, deafness, and epilepsy, and cheilitis and tumors were more common in patients with the XP phenotype, but the differences were not significant. XP/CS can cause abnormal liver function and even fatality, which should be given attention. ERCC5 mutation‐related diseases were characterized by mild to severe clinical phenotypes. In addition to tumors, liver function should be considered in ERCC5‐related diseases, and patients should be cautious with medication to avoid drug‐induced liver injury.
{"title":"The clinical spectrum associated with ERCC5 mutations: Is there a relationship between phenotype and genotype?","authors":"Jinpeng Zhang, Jiannan Ma, Yuanyuan Luo, Si-qi Hong, Li Jiang, Tianyi Li","doi":"10.1002/pdi3.71","DOIUrl":"https://doi.org/10.1002/pdi3.71","url":null,"abstract":"Mutations in the ERCC5 gene can lead to different clinical phenotypes, few articles have reported the clinical phenotypes in detail and explained the relationship between genotype and phenotype. The clinical data of cases with ERCC5 gene mutations diagnosed in our center and reported in previous studies were collected. The cases were divided into three groups based on phenotype; the differences of clinical manifestation and genotype among groups were analyzed. Genetic tests showed a complex heterozygous mutation of the ERCC5 gene with paternal C.402_C.403 (exon 4) insA (p.T135Nfs*28) and maternal C.1096 (exon 8) C > T (p.R366X.821) in our case. The gene mutation has not been reported and was predicted to seriously affect the protein structure. According to a review of 59 cases of ERCC5 mutations, cerebrooculofacioskeletal syndrome (COFS) occurred in 16 cases, XP in 19 cases, and XP/CS in 24 cases. The incidence of physical retardation, mental retardation, peripheral neuropathy, magnetic resonance abnormalities and fundus/vision abnormalities in XP/CS patients was significantly higher than that in XP patients. In addition, patients with the XP/CS phenotype were more prone to appearance abnormalities, deafness, and epilepsy, and cheilitis and tumors were more common in patients with the XP phenotype, but the differences were not significant. XP/CS can cause abnormal liver function and even fatality, which should be given attention. ERCC5 mutation‐related diseases were characterized by mild to severe clinical phenotypes. In addition to tumors, liver function should be considered in ERCC5‐related diseases, and patients should be cautious with medication to avoid drug‐induced liver injury.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":"97 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141714413","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bei Tong, Junyan Yan, Zhujun Sun, Ruifang Luo, Fang Lin, Riqiang Hu, Ting Yang, Yuting Wang, Jie Chen
DNA methylation is widely involved in the modification of intestinal function, but the methylation mechanism in the enteric nervous system has not been studied in vitamin A deficiency (VAD). Herein, we firstly found that in the VAD group, gastrointestinal transit time was delayed compared with the vitamin A normal (VAN) group. RNA sequencing between VAD and VAN rats identified enriched pathways associated with enteric nerves and methylation transferase complexes. Then expression levels of DNA methyltransferases (DNMT1, DNMT3a and DNMT3b) were validated to significant increase in the VAD group. Representative reduced bisulfate sequencing showed that the VAD rats had high levels of DNA methylation in promoters and exons compared with the VAN rats. A combined methylomic and transcriptomic analysis identified that methylation levels of Sgk1, a key gene associated with enteric neural development, were elevated in the VAD group, and the activity of the SGK1/FOXO signaling axis was reduced. Furthermore, the colonic neuronal morphology and synaptic architecture were impaired in the VAD offspring. Interestingly, the above alterations in the VAD group were alleviated by vitamin A (VA) supplementation in the early postnatal period. These data suggest that VAD triggers colonic hypermethylation, which probably downregulates the SGK1/FOXO signaling pathway to cause colonic transfer dysfunction.
DNA 甲基化广泛参与了肠道功能的改变，但对维生素 A 缺乏症（VAD）患者肠道神经系统的甲基化机制尚未进行研究。在此，我们首先发现，与维生素 A 正常（VAN）组相比，VAD 组的胃肠道转运时间延迟。VAD 组和 VAN 组大鼠的 RNA 测序发现了与肠神经和甲基化转移酶复合物相关的丰富通路。DNA甲基转移酶（DNMT1、DNMT3a和DNMT3b）的表达水平在VAD组显著增加。代表性的还原硫酸氢盐测序显示，与 VAN 大鼠相比，VAD 大鼠启动子和外显子中的 DNA 甲基化水平较高。结合甲基组和转录组分析发现，VAD 组与肠道神经发育相关的关键基因 Sgk1 的甲基化水平升高，SGK1/FOXO 信号轴的活性降低。此外，VAD 后代的结肠神经元形态和突触结构也受损。有趣的是，在出生后早期补充维生素 A（VA）可缓解 VAD 组的上述改变。这些数据表明，VAD 会引发结肠超甲基化，从而可能下调 SGK1/FOXO 信号通路，导致结肠转移功能障碍。
{"title":"Vitamin A deficiency triggers colonic methylation potentially impairing colonic neuron via downregulation SGK1/FOXO pathway","authors":"Bei Tong, Junyan Yan, Zhujun Sun, Ruifang Luo, Fang Lin, Riqiang Hu, Ting Yang, Yuting Wang, Jie Chen","doi":"10.1002/pdi3.86","DOIUrl":"https://doi.org/10.1002/pdi3.86","url":null,"abstract":"DNA methylation is widely involved in the modification of intestinal function, but the methylation mechanism in the enteric nervous system has not been studied in vitamin A deficiency (VAD). Herein, we firstly found that in the VAD group, gastrointestinal transit time was delayed compared with the vitamin A normal (VAN) group. RNA sequencing between VAD and VAN rats identified enriched pathways associated with enteric nerves and methylation transferase complexes. Then expression levels of DNA methyltransferases (DNMT1, DNMT3a and DNMT3b) were validated to significant increase in the VAD group. Representative reduced bisulfate sequencing showed that the VAD rats had high levels of DNA methylation in promoters and exons compared with the VAN rats. A combined methylomic and transcriptomic analysis identified that methylation levels of Sgk1, a key gene associated with enteric neural development, were elevated in the VAD group, and the activity of the SGK1/FOXO signaling axis was reduced. Furthermore, the colonic neuronal morphology and synaptic architecture were impaired in the VAD offspring. Interestingly, the above alterations in the VAD group were alleviated by vitamin A (VA) supplementation in the early postnatal period. These data suggest that VAD triggers colonic hypermethylation, which probably downregulates the SGK1/FOXO signaling pathway to cause colonic transfer dysfunction.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":"14 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141343106","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Juan Wang, Yongfang Liu, L. Xie, Min Cheng, Lianying Feng, Yuhang Liu, Yi Guo, Li Jiang
To investigate the clinical characteristics of febrile infection‐related epilepsy syndrome (FIRES). We used trajectory analysis and logistic regression analysis to investigate the clinical characteristics and prognostic risk factors respectively. Twenty‐seven patients (16 males) were included. The median age of onset was 7 (IQR: 4–9) years. Routine cerebrospinal fluid (CSF) examination was normal. Electroencephalogram (EEG) showed frequent microseizures and electroseizures in all patients. Eight patients had claustrum signs in the acute phase. Anesthetics and anti‐seizure medications (ASM) were used in all patients. All patients received immunotherapy, including plasma exchange (n = 4), immunoglobulin (n = 26), and corticosteroids (n = 19). Trajectory diagrams of seizure showed 6 patients had bimodal disease course. Besides, we found there may be a linear relationship between body temperature and convulsion frequency (R2 = 0.25). The median Glasgow outcome scale (GOS) was 3 (IQR: 1–4). Nine deaths occurred, including abandonment of treatment (n = 3), hemodynamic instability (n = 3), brain hernia (n = 2), and brain hernia with hemodynamic instability (n = 1). Seizure onset combined with fever (p = 0.003), periodic discharge (p = 0.002), and non‐ketogenic diet (non‐KD) (p = 0.005) were independent risk factors for death. The KD group (n = 10) had lower mortality (p = 0.009), lower convulsion frequency at latest follow‐up (p < 0.001), less ASM (p = 0.002), and higher GOS (p < 0.001) than non‐KD group (n = 17). Therefore, some FIRES patients may have bimodal disease course. There may be a linear relationship between body temperature and convulsion frequency. Seizure onset combined with fever, periodic discharge and KD may affect the prognosis.
{"title":"Clinical characteristics of 27 children with febrile infection‐related epilepsy syndrome in a single center","authors":"Juan Wang, Yongfang Liu, L. Xie, Min Cheng, Lianying Feng, Yuhang Liu, Yi Guo, Li Jiang","doi":"10.1002/pdi3.84","DOIUrl":"https://doi.org/10.1002/pdi3.84","url":null,"abstract":"To investigate the clinical characteristics of febrile infection‐related epilepsy syndrome (FIRES). We used trajectory analysis and logistic regression analysis to investigate the clinical characteristics and prognostic risk factors respectively. Twenty‐seven patients (16 males) were included. The median age of onset was 7 (IQR: 4–9) years. Routine cerebrospinal fluid (CSF) examination was normal. Electroencephalogram (EEG) showed frequent microseizures and electroseizures in all patients. Eight patients had claustrum signs in the acute phase. Anesthetics and anti‐seizure medications (ASM) were used in all patients. All patients received immunotherapy, including plasma exchange (n = 4), immunoglobulin (n = 26), and corticosteroids (n = 19). Trajectory diagrams of seizure showed 6 patients had bimodal disease course. Besides, we found there may be a linear relationship between body temperature and convulsion frequency (R2 = 0.25). The median Glasgow outcome scale (GOS) was 3 (IQR: 1–4). Nine deaths occurred, including abandonment of treatment (n = 3), hemodynamic instability (n = 3), brain hernia (n = 2), and brain hernia with hemodynamic instability (n = 1). Seizure onset combined with fever (p = 0.003), periodic discharge (p = 0.002), and non‐ketogenic diet (non‐KD) (p = 0.005) were independent risk factors for death. The KD group (n = 10) had lower mortality (p = 0.009), lower convulsion frequency at latest follow‐up (p < 0.001), less ASM (p = 0.002), and higher GOS (p < 0.001) than non‐KD group (n = 17). Therefore, some FIRES patients may have bimodal disease course. There may be a linear relationship between body temperature and convulsion frequency. Seizure onset combined with fever, periodic discharge and KD may affect the prognosis.","PeriodicalId":498028,"journal":{"name":"Pediatric Discovery","volume":" 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141366857","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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