Autism spectrum disorder (ASD) is a group of severe neurodevelopmental disorders with unclear etiology and significant heterogeneity that is emerging as a global public health concern. Increasing research suggests the involvement of hippocampal neurogenesis defects in the onset and development of ASD, drawing increasing amounts of attention to hippocampal neurogenesis issues in ASD. In this paper, we analyze relevant international studies on hippocampal neurogenesis in ASD, discuss the role of neurobiology in the pathogenesis of ASD, and explore the potential of improving hippocampal neurogenesis as a therapeutic approach for ASD. This review aims to provide new treatment perspectives and theoretical foundations for clinical practice.
{"title":"Research progress on hippocampal neurogenesis in autism spectrum disorder","authors":"Mengxiang Chen, Lanmin Guo, Qinghong Li, Shunbo Yang, Wei Li, Yanmei Lai, Zhihai Lv","doi":"10.1002/ped4.12440","DOIUrl":"https://doi.org/10.1002/ped4.12440","url":null,"abstract":"Autism spectrum disorder (ASD) is a group of severe neurodevelopmental disorders with unclear etiology and significant heterogeneity that is emerging as a global public health concern. Increasing research suggests the involvement of hippocampal neurogenesis defects in the onset and development of ASD, drawing increasing amounts of attention to hippocampal neurogenesis issues in ASD. In this paper, we analyze relevant international studies on hippocampal neurogenesis in ASD, discuss the role of neurobiology in the pathogenesis of ASD, and explore the potential of improving hippocampal neurogenesis as a therapeutic approach for ASD. This review aims to provide new treatment perspectives and theoretical foundations for clinical practice.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141810376","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Qianqian Mao, Zhenping Chen, Guoqing Liu, Gang Li, Y. Zhen, Xiaoling Cheng, Zekun Li, W. Yao, Di Ai, Zhengping Li, Nan Wang, Man-Chiu Poon, Runhui Wu
Emicizumab (EMI) is efficacious and safe for hemophilia A (HA) prophylaxis. However, its high cost poses a challenge in China.To explore the possibility of using reduced‐dosage EMI in Chinese HA children.We conducted a retrospective study for HA children in our Comprehensive Care Center. Data were collected pre‐ and post‐EMI treatment to evaluate bleeding rates. Laboratory analyses included factor VIII (FVIII)‐like activity and EMI concentration measurements.Thirty‐four HA children receiving EMI prophylaxis for a median (range) 24.5 (2.5–47.9) months by June 2023. Of these, 25 (73.5%) were under 3 years of age, 26 (76.5%) had severe hemophilia and 12 (35.3%) were minimally treated or previously untreated patients. Thirty‐one (91.2%) of the 34 patients received reduced‐dosage EMI for economic reasons. EMI concentration and FVIII‐like activity measured showed a strong correlation. Overall, while on EMI, their annual treated bleeding rate (ATBR) and annual bleeding rate (ABR) decreased significantly (2–0) while their zero‐bleeding rate (ZBR) increased significantly (11.5%–65.4%). After 6 months of EMI, there was no significant difference in ATBR and ABR among various maintenance dosages. However, ZBR was significantly lower in dosages under 4 mg/kg (P = 0.0156). Receiver operator characteristic curves suggested the following cutoff values for zero bleeding: EMI 4‐weekly maintenance dosage 3.8 mg/kg, EMI concentration 48.1 μg/mL, and FVIII‐like activity 15.4 IU/dL.We showed EMI effectively prevented bleeding even at reduced dosages. However, the bleeding risk may be higher with EMI 4‐weekly maintenance dosage <3.8 mg/kg, EMI concentration <48.1 μg/mL, and FVIII‐like activity <15.4 IU/dL for zero bleeding. It is important that dosage reduction be done rationally. Dosage tailoring is possible.
{"title":"Real‐world use of emicizumab in Chinese children with hemophilia A: Retrospective data from a comprehensive care center","authors":"Qianqian Mao, Zhenping Chen, Guoqing Liu, Gang Li, Y. Zhen, Xiaoling Cheng, Zekun Li, W. Yao, Di Ai, Zhengping Li, Nan Wang, Man-Chiu Poon, Runhui Wu","doi":"10.1002/ped4.12439","DOIUrl":"https://doi.org/10.1002/ped4.12439","url":null,"abstract":"Emicizumab (EMI) is efficacious and safe for hemophilia A (HA) prophylaxis. However, its high cost poses a challenge in China.To explore the possibility of using reduced‐dosage EMI in Chinese HA children.We conducted a retrospective study for HA children in our Comprehensive Care Center. Data were collected pre‐ and post‐EMI treatment to evaluate bleeding rates. Laboratory analyses included factor VIII (FVIII)‐like activity and EMI concentration measurements.Thirty‐four HA children receiving EMI prophylaxis for a median (range) 24.5 (2.5–47.9) months by June 2023. Of these, 25 (73.5%) were under 3 years of age, 26 (76.5%) had severe hemophilia and 12 (35.3%) were minimally treated or previously untreated patients. Thirty‐one (91.2%) of the 34 patients received reduced‐dosage EMI for economic reasons. EMI concentration and FVIII‐like activity measured showed a strong correlation. Overall, while on EMI, their annual treated bleeding rate (ATBR) and annual bleeding rate (ABR) decreased significantly (2–0) while their zero‐bleeding rate (ZBR) increased significantly (11.5%–65.4%). After 6 months of EMI, there was no significant difference in ATBR and ABR among various maintenance dosages. However, ZBR was significantly lower in dosages under 4 mg/kg (P = 0.0156). Receiver operator characteristic curves suggested the following cutoff values for zero bleeding: EMI 4‐weekly maintenance dosage 3.8 mg/kg, EMI concentration 48.1 μg/mL, and FVIII‐like activity 15.4 IU/dL.We showed EMI effectively prevented bleeding even at reduced dosages. However, the bleeding risk may be higher with EMI 4‐weekly maintenance dosage <3.8 mg/kg, EMI concentration <48.1 μg/mL, and FVIII‐like activity <15.4 IU/dL for zero bleeding. It is important that dosage reduction be done rationally. Dosage tailoring is possible.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141817221","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Jiaxin Zhang, Weiwei Du, Zongli Zhang, Tao Li, Xingchao Li, Shibing Xi
Bronchopulmonary dysplasia (BPD) is a chronic lung disease that arises during the neonatal period, and its underlying mechanisms are still not fully understood. The disorder of microvascular development plays a significant role in the development of BPD. This article presents a comprehensive review of the advancements made in understanding the mechanisms and treatment approaches related to microvascular development in the pathogenesis of BPD.
{"title":"Research progress of microvascular development in bronchopulmonary dysplasia","authors":"Jiaxin Zhang, Weiwei Du, Zongli Zhang, Tao Li, Xingchao Li, Shibing Xi","doi":"10.1002/ped4.12441","DOIUrl":"https://doi.org/10.1002/ped4.12441","url":null,"abstract":"Bronchopulmonary dysplasia (BPD) is a chronic lung disease that arises during the neonatal period, and its underlying mechanisms are still not fully understood. The disorder of microvascular development plays a significant role in the development of BPD. This article presents a comprehensive review of the advancements made in understanding the mechanisms and treatment approaches related to microvascular development in the pathogenesis of BPD.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":1.9,"publicationDate":"2024-07-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141654440","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
F. Vendrusculo, Gisele A DA Costa, M. A. Bagatini, Brenda M Lemes, Carolina Aguiar Faria, L. C. de Oliveira, E. Aquino, M. V. Donadio
The 3‐min step test is a simple option to monitor submaximal exercise capacity, although its use via remote video monitoring has not been investigated in children with cystic fibrosis (CF).This study aimed to assess the feasibility and reproducibility of performing the 3‐min step test with remote supervision.A cross‐sectional study including CF patients (6–18 years) from two CF services were performed. Demographic, anthropometric, clinical, and lung function data were collected and two 3‐min step tests were performed: (i) in‐person supervision, and (ii) remotely supervised by video monitoring. Before and after the tests, heart rate (HR), oxygen saturation (SpO2), and the Borg score for dyspnea and lower limb fatigue were monitored.Twenty‐three patients (10.7 ± 3.7 years) with a mean FEV1 of 89.5% ± 23.2% were included. There were no significant differences between tests, with mean differences (95% confidence intervals) in final HR of –3.3 (–8.9, 2.4), change in HR of –1.9 (–6.1, 2.1), final SpO2 of 0.3 (–0.4, 1.0), and final dyspnea of 0.1 (–0.8, 0.9). The intraclass correlation coefficient was 0.852 (final HR), 0.762 (final SpO2), and 0.775 (final lower limb fatigue). Significant and moderate correlations were found between tests for final HR (r = 0.75), change in HR (r = 0.61), and final SpO2 (r = 0.61). The Bland–Altman analysis showed a mean difference in final SpO2 between tests of 0.3% (limit of agreement –3.0%, 3.5%).Physiological responses between tests were similar, indicating it was feasible to perform the 3‐min step test with remote supervision in CF children.
{"title":"Feasibility of performing the 3‐minute step test with remote supervision in children and adolescents with cystic fibrosis: A comparative study","authors":"F. Vendrusculo, Gisele A DA Costa, M. A. Bagatini, Brenda M Lemes, Carolina Aguiar Faria, L. C. de Oliveira, E. Aquino, M. V. Donadio","doi":"10.1002/ped4.12436","DOIUrl":"https://doi.org/10.1002/ped4.12436","url":null,"abstract":"The 3‐min step test is a simple option to monitor submaximal exercise capacity, although its use via remote video monitoring has not been investigated in children with cystic fibrosis (CF).This study aimed to assess the feasibility and reproducibility of performing the 3‐min step test with remote supervision.A cross‐sectional study including CF patients (6–18 years) from two CF services were performed. Demographic, anthropometric, clinical, and lung function data were collected and two 3‐min step tests were performed: (i) in‐person supervision, and (ii) remotely supervised by video monitoring. Before and after the tests, heart rate (HR), oxygen saturation (SpO2), and the Borg score for dyspnea and lower limb fatigue were monitored.Twenty‐three patients (10.7 ± 3.7 years) with a mean FEV1 of 89.5% ± 23.2% were included. There were no significant differences between tests, with mean differences (95% confidence intervals) in final HR of –3.3 (–8.9, 2.4), change in HR of –1.9 (–6.1, 2.1), final SpO2 of 0.3 (–0.4, 1.0), and final dyspnea of 0.1 (–0.8, 0.9). The intraclass correlation coefficient was 0.852 (final HR), 0.762 (final SpO2), and 0.775 (final lower limb fatigue). Significant and moderate correlations were found between tests for final HR (r = 0.75), change in HR (r = 0.61), and final SpO2 (r = 0.61). The Bland–Altman analysis showed a mean difference in final SpO2 between tests of 0.3% (limit of agreement –3.0%, 3.5%).Physiological responses between tests were similar, indicating it was feasible to perform the 3‐min step test with remote supervision in CF children.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-12","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141351188","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pediatric cerebral cavernous malformation (CCM) is a rarely encountered vascular entity. Comparative study on surgical excision and nonsurgical management outcomes of CCM in pediatrics is limited.To determine the demographic characteristics, hemorrhage rate, and long‐term outcomes of pediatric patients with CCM.A retrospective study of pediatric patients with CCM in Chinese PLA General Hospital was conducted between January 2004 and January 2019. We compared the clinical characteristics, radiological features, and outcomes of the surgical and nonsurgical groups.Seventy‐nine children were included, with 69.6% being boys, and the average age was 11.8 ± 5.5 years. The annual retrospective hemorrhagic rate was 5.7% per patient per year. Fifty‐six children (70.9%) underwent surgical excision, and they were more likely to present with seizure symptoms (P = 0.011), have a higher proportion of larger lesion size (P = 0.008), less likely to have durations ≤10 days (P = 0.048), and less likely to have supratentorial deep CCM (P = 0.014) compared to children who received nonsurgical management. Total resection was achieved in most surgical cases (55, 98.2%). During the 143.9 ± 50.8 months of follow‐up, 44 patients (78.6%) achieved improvement, 12 patients (17.8%) remained the same, and two (3.6%) experienced worsening. In the nonsurgical management group, 14 children (60.9%) experienced symptom improvement, eight (34.8%) remained the same, and one (4.3%) worsened, with a re‐hemorrhagic risk of 8.7%.Surgical removal of pediatric CCM can eliminate the risk of hemorrhage and lead to satisfactory outcomes. For children undergoing nonsurgical management, long‐term close monitoring is essential due to the life‐long risk of hemorrhage.
{"title":"Outcomes after surgical and nonsurgical treatment of pediatric cerebral cavernous malformation","authors":"Haohao Zhang, Qishuai Yu, Zhiqi Mao, Liang Zhang, Xinguang Yu","doi":"10.1002/ped4.12435","DOIUrl":"https://doi.org/10.1002/ped4.12435","url":null,"abstract":"Pediatric cerebral cavernous malformation (CCM) is a rarely encountered vascular entity. Comparative study on surgical excision and nonsurgical management outcomes of CCM in pediatrics is limited.To determine the demographic characteristics, hemorrhage rate, and long‐term outcomes of pediatric patients with CCM.A retrospective study of pediatric patients with CCM in Chinese PLA General Hospital was conducted between January 2004 and January 2019. We compared the clinical characteristics, radiological features, and outcomes of the surgical and nonsurgical groups.Seventy‐nine children were included, with 69.6% being boys, and the average age was 11.8 ± 5.5 years. The annual retrospective hemorrhagic rate was 5.7% per patient per year. Fifty‐six children (70.9%) underwent surgical excision, and they were more likely to present with seizure symptoms (P = 0.011), have a higher proportion of larger lesion size (P = 0.008), less likely to have durations ≤10 days (P = 0.048), and less likely to have supratentorial deep CCM (P = 0.014) compared to children who received nonsurgical management. Total resection was achieved in most surgical cases (55, 98.2%). During the 143.9 ± 50.8 months of follow‐up, 44 patients (78.6%) achieved improvement, 12 patients (17.8%) remained the same, and two (3.6%) experienced worsening. In the nonsurgical management group, 14 children (60.9%) experienced symptom improvement, eight (34.8%) remained the same, and one (4.3%) worsened, with a re‐hemorrhagic risk of 8.7%.Surgical removal of pediatric CCM can eliminate the risk of hemorrhage and lead to satisfactory outcomes. For children undergoing nonsurgical management, long‐term close monitoring is essential due to the life‐long risk of hemorrhage.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141355660","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Infant anogenital digitate keratoses: A common but often neglected disease","authors":"Jiayue Wang, Bin Zhang","doi":"10.1002/ped4.12430","DOIUrl":"https://doi.org/10.1002/ped4.12430","url":null,"abstract":"","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141375215","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zhengping Li, Jie Sun, Zekun Li, Zhenping Chen, Guoqing Liu, W. Yao, Xiaoling Cheng, Gang Li, Y. Zhen, Di Ai, Yaohan Zhou, Qianqian Mao, Man-Chiu Poon, Runhui Wu
It remained unclear that the efficacy comparison between low‐dose immune tolerance induction (LD‐ITI) incorporating immunosuppressants (IS) when severe hemophilia A (SHA) patients had inhibitor‐titer ≥200 Bethesda Units (BU)/mL (LD‐ITI‐IS200 regimen) and LD‐ITI combining with IS when SHA patients had inhibitor‐titer ≥40 BU/mL (LD‐ITI‐IS40 regimen).To compare the efficacy of the LD‐ITI‐IS200 regimen with that of the LD‐ITI‐IS40 regimen for SHA patients with high‐titer inhibitors.A prospective cohort study on patients receiving LD‐ITI‐IS200 compared to those receiving LD‐ITI‐IS40 from January 2021 to December 2023. Both received LD‐ITI [FVIII 50 IU/kg every other day]. IS (rituximab + prednisone) was added when peak inhibitor tier ≥200 BU/mL in the LD‐ITI‐IS200 regimen and ≥40 BU/mL in the LD‐ITI‐IS40 regimen. Success is defined as a negative inhibitor plus FVIII recovery ≥66% of the expected.We enrolled 30 patients on LD‐ITI‐IS200 and 64 patients on LD‐ITI‐IS40, with similar baseline clinical characteristics. A lower IS‐use rate was discovered in the LD‐ITI‐IS200 regimen compared to the LD‐ITI‐IS40 regimen (30.0% vs. 62.5%). The two regimens (LD‐ITI‐IS200 vs. LD‐ITI‐IS40) had similar success rate (70.0% vs. 79.7%), median time to success (9.4 vs. 10.6 months), and annualized bleeding rate during ITI (3.7 vs. 2.8). The cost to success was lower for LD‐ITI‐IS200 than for LD‐ITI‐IS40 (2107 vs. 3256 US Dollar/kg). Among patients with peak inhibitor‐titer 40–199 BU/mL, 10 non‐IS‐using (on LD‐ITI‐IS200 regimen) and 28 IS‐using (on LD‐ITI‐IS40 regimen) had similar success rates (70.0% vs. 78.6%) and time to success (9.0 vs. 8.8 months).In LD‐ITI, IS are not necessary for inhibitor titer <200 BU/mL.
{"title":"Low‐dose immune tolerance induction for severe hemophilia A inhibitor patients: Immunosuppressants are generally not necessary for inhibitor‐titer below 200 BU/mL","authors":"Zhengping Li, Jie Sun, Zekun Li, Zhenping Chen, Guoqing Liu, W. Yao, Xiaoling Cheng, Gang Li, Y. Zhen, Di Ai, Yaohan Zhou, Qianqian Mao, Man-Chiu Poon, Runhui Wu","doi":"10.1002/ped4.12429","DOIUrl":"https://doi.org/10.1002/ped4.12429","url":null,"abstract":"It remained unclear that the efficacy comparison between low‐dose immune tolerance induction (LD‐ITI) incorporating immunosuppressants (IS) when severe hemophilia A (SHA) patients had inhibitor‐titer ≥200 Bethesda Units (BU)/mL (LD‐ITI‐IS200 regimen) and LD‐ITI combining with IS when SHA patients had inhibitor‐titer ≥40 BU/mL (LD‐ITI‐IS40 regimen).To compare the efficacy of the LD‐ITI‐IS200 regimen with that of the LD‐ITI‐IS40 regimen for SHA patients with high‐titer inhibitors.A prospective cohort study on patients receiving LD‐ITI‐IS200 compared to those receiving LD‐ITI‐IS40 from January 2021 to December 2023. Both received LD‐ITI [FVIII 50 IU/kg every other day]. IS (rituximab + prednisone) was added when peak inhibitor tier ≥200 BU/mL in the LD‐ITI‐IS200 regimen and ≥40 BU/mL in the LD‐ITI‐IS40 regimen. Success is defined as a negative inhibitor plus FVIII recovery ≥66% of the expected.We enrolled 30 patients on LD‐ITI‐IS200 and 64 patients on LD‐ITI‐IS40, with similar baseline clinical characteristics. A lower IS‐use rate was discovered in the LD‐ITI‐IS200 regimen compared to the LD‐ITI‐IS40 regimen (30.0% vs. 62.5%). The two regimens (LD‐ITI‐IS200 vs. LD‐ITI‐IS40) had similar success rate (70.0% vs. 79.7%), median time to success (9.4 vs. 10.6 months), and annualized bleeding rate during ITI (3.7 vs. 2.8). The cost to success was lower for LD‐ITI‐IS200 than for LD‐ITI‐IS40 (2107 vs. 3256 US Dollar/kg). Among patients with peak inhibitor‐titer 40–199 BU/mL, 10 non‐IS‐using (on LD‐ITI‐IS200 regimen) and 28 IS‐using (on LD‐ITI‐IS40 regimen) had similar success rates (70.0% vs. 78.6%) and time to success (9.0 vs. 8.8 months).In LD‐ITI, IS are not necessary for inhibitor titer <200 BU/mL.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-06-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141377709","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yilin Pang, Feng Huo, Xiao Liu, Yimu Fan, Zhezhe Zhang, Jie Wu, Quan Wang
Lysinuric protein intolerance (LPI) is a rare genetic disorder caused by mutations in the solute carrier family 7A member 7 (SLC7A7) gene.We presented two siblings with LPI, carrying novel mutations of c.776delT (p.L259Rfs*18) and c.155G>T (p.G52V) in SLC7A7. The younger sibling, preferring protein‐rich foods, showed severe symptoms, including alveolar proteinosis, macrophage activation syndrome, severe diarrhea, and disturbance of consciousness with involuntary movements. In contrast, the elder sibling only had mild symptoms, likely due to aversion to protein‐rich food since toddler age.LPI is a congenital genetic metabolic disease with multi‐system involvement. Initiating appropriate protein‐restricted diet therapy as soon as possible could help prevent the progression of LPI.
{"title":"Lysinuric protein intolerance with novel mutations in solute carrier family 7A member 7 in a Chinese family","authors":"Yilin Pang, Feng Huo, Xiao Liu, Yimu Fan, Zhezhe Zhang, Jie Wu, Quan Wang","doi":"10.1002/ped4.12427","DOIUrl":"https://doi.org/10.1002/ped4.12427","url":null,"abstract":"Lysinuric protein intolerance (LPI) is a rare genetic disorder caused by mutations in the solute carrier family 7A member 7 (SLC7A7) gene.We presented two siblings with LPI, carrying novel mutations of c.776delT (p.L259Rfs*18) and c.155G>T (p.G52V) in SLC7A7. The younger sibling, preferring protein‐rich foods, showed severe symptoms, including alveolar proteinosis, macrophage activation syndrome, severe diarrhea, and disturbance of consciousness with involuntary movements. In contrast, the elder sibling only had mild symptoms, likely due to aversion to protein‐rich food since toddler age.LPI is a congenital genetic metabolic disease with multi‐system involvement. Initiating appropriate protein‐restricted diet therapy as soon as possible could help prevent the progression of LPI.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-05-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140964279","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bin Zhang, R. He, Riga Wu, Zhou Yang, Man Hu, Nan Zhang, Wu Guo, Zigang Xu, Lin Ma
Postzygotic mutations in the GNAQ/GNA11 genes, which encode the G‐protein nucleotide binding protein alpha subunits, have been identified in patients with phakomatosis pigmentovascularis (PPV). However, little is known about the Chinese population.To identify pathogenic mutations in pediatric patients with PPV within the Chinese population.We performed whole‐exome sequencing (WES) using skin lesion tissues from pediatric patients diagnosed with PPV. Additionally, ultradeep‐targeted sequencing was conducted to validate the somatic mutations. A genotype‐phenotype correlation was analyzed by integrating data from previous reports with the findings of the present study.Thirteen patients were enrolled, all diagnosed with the cesioflammea type of PPV, except for one patient with an unclassifiable type. We identified somatic GNA11 c.547C>T (p.R183C) variant in seven patients and GNAQ c.548G>A (p.R183Q) in four patients, with low allelic fractions ranging from 2.1% to 8.6% through ultradeep sequencing. Besides, a GNAQ c.548G>A (p.R183Q) variant was detected through targeted sequencing in one of two patients who did not exhibit detectable variants via WES. The genotype‐phenotype correlation analysis, involving 15 patients with a GNA11 variant and 10 with a GNAQ variant, revealed that facial capillary malformation (87% vs. 50%, P = 0.075) and ocular melanocytosis (80% vs. 40%, P = 0.087) appeared to be more frequent in patients with GNA11 mutation compared to those with GNAQ mutations. All four patients diagnosed with cesiomarmorata type or overlapping cesioflammea and cesiomarmorata type PPV carried the GNA11 variant.Our study demonstrated that the majority of PPV patients in the Chinese population carried a postzygotic variant of GNAQ/GNA11, thus further confirming the pathogenic role of GNAQ/GNA11 mosaicism in the development of PPV cesioflammea type.
{"title":"Somatic GNA11/GNAQ variants in a cohort of Chinese children with phakomatosis pigmentovascularis","authors":"Bin Zhang, R. He, Riga Wu, Zhou Yang, Man Hu, Nan Zhang, Wu Guo, Zigang Xu, Lin Ma","doi":"10.1002/ped4.12424","DOIUrl":"https://doi.org/10.1002/ped4.12424","url":null,"abstract":"Postzygotic mutations in the GNAQ/GNA11 genes, which encode the G‐protein nucleotide binding protein alpha subunits, have been identified in patients with phakomatosis pigmentovascularis (PPV). However, little is known about the Chinese population.To identify pathogenic mutations in pediatric patients with PPV within the Chinese population.We performed whole‐exome sequencing (WES) using skin lesion tissues from pediatric patients diagnosed with PPV. Additionally, ultradeep‐targeted sequencing was conducted to validate the somatic mutations. A genotype‐phenotype correlation was analyzed by integrating data from previous reports with the findings of the present study.Thirteen patients were enrolled, all diagnosed with the cesioflammea type of PPV, except for one patient with an unclassifiable type. We identified somatic GNA11 c.547C>T (p.R183C) variant in seven patients and GNAQ c.548G>A (p.R183Q) in four patients, with low allelic fractions ranging from 2.1% to 8.6% through ultradeep sequencing. Besides, a GNAQ c.548G>A (p.R183Q) variant was detected through targeted sequencing in one of two patients who did not exhibit detectable variants via WES. The genotype‐phenotype correlation analysis, involving 15 patients with a GNA11 variant and 10 with a GNAQ variant, revealed that facial capillary malformation (87% vs. 50%, P = 0.075) and ocular melanocytosis (80% vs. 40%, P = 0.087) appeared to be more frequent in patients with GNA11 mutation compared to those with GNAQ mutations. All four patients diagnosed with cesiomarmorata type or overlapping cesioflammea and cesiomarmorata type PPV carried the GNA11 variant.Our study demonstrated that the majority of PPV patients in the Chinese population carried a postzygotic variant of GNAQ/GNA11, thus further confirming the pathogenic role of GNAQ/GNA11 mosaicism in the development of PPV cesioflammea type.","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140693723","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Samantha Gilg, Sebastián Acosta, Rohit S. Loomba, Claire Rizk, Gary E. Stapleton, David Faraoni, F. Savorgnan
{"title":"Association between balloon atrial septostomy and prostaglandin E1 therapy until repair of transposition of the great arteries in neonates","authors":"Samantha Gilg, Sebastián Acosta, Rohit S. Loomba, Claire Rizk, Gary E. Stapleton, David Faraoni, F. Savorgnan","doi":"10.1002/ped4.12425","DOIUrl":"https://doi.org/10.1002/ped4.12425","url":null,"abstract":"","PeriodicalId":19992,"journal":{"name":"Pediatric Investigation","volume":null,"pages":null},"PeriodicalIF":2.2,"publicationDate":"2024-04-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140731131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：