Background: The goal of fluid resuscitation and the use of inotropes in septic shock has traditionally focused on improving blood pressure and cardiac output, without considering the microcirculatory changes. Reaching macrocirculatory goals but with persistent microcirculatory abnormalities (hemodynamic incoherence) in septic shock has been associated with greater organ dysfunction and mortality. The objective of this study was to evaluate the microcirculation (flow and capillary density) and endothelial glycocalyx changes associated with the use of milrinone in children with septic shock, as well as their relationship with clinical variables and organ dysfunction.
Methods: A prospective cohort study from February 2022 to January 2023 at a university hospital (Fundación Cardioinfantil-Instituto de Cardiología). Sublingual video microscopy was used to evaluate capillary density, microvascular flow rates and perfused boundary region (PBR-inverse parameter of glycocalyx thickness-abnormal if >2.0 microns). The primary outcome was the association between microcirculation and endothelial glycocalyx changes related to the use of milrinone.
Results: A total of 140 children with a median age of two years [interquartile range (IQR) 0.58-12.1] were included. About 57.9% (81/140) of the patients received milrinone infusions. Twenty-four hours after receiving milrinone, the patients maintained functional capillary density (P<0.01) and capillary recruitment capacity (P=0.04) with no changes in capillary blood volume versus those who did not receive milrinone. Children under two years old who received milrinone had better 4-6-micron capillary density than older children [odds ratio (OR) 0.33; 95% confidence interval (95% CI): 0.12-0.89; P=0.02] and less endothelial glycocalyx degradation [adjusted OR (aOR) 0.34 95% CI: 0.11-0.99; P=0.04]. These changes persisted despite elevated ferritin (aOR 0.41; 95% CI: 0.18-0.93; P=0.03). Prolonged capillary refill and elevated lactate were correlated with microcirculation changes in both groups. The patients who died had the highest PBR levels (P=0.04).
Conclusions: Children with septic shock who receive milrinone infusions have microcirculation changes compared with those who do not receive them. The group that received milrinone was found to maintain functional capillary density and capillary recruitment capacity and have less endothelial glycocalyx degradation 24 hours after administration. These changes were present despite the inflammatory response and were more significant in those under two years of age.
{"title":"Microcirculation, endothelium and glycocalyx changes associated with the use of milrinone in children with septic shock.","authors":"Mauricio Sarta-Mantilla, Jaime Fernández-Sarmiento, Lorena Acevedo, Hernando Mulett, Andres Nieto, Natalia Lucena, Jeisson Lancheros, Catalina Duque","doi":"10.21037/tp-23-619","DOIUrl":"10.21037/tp-23-619","url":null,"abstract":"<p><strong>Background: </strong>The goal of fluid resuscitation and the use of inotropes in septic shock has traditionally focused on improving blood pressure and cardiac output, without considering the microcirculatory changes. Reaching macrocirculatory goals but with persistent microcirculatory abnormalities (hemodynamic incoherence) in septic shock has been associated with greater organ dysfunction and mortality. The objective of this study was to evaluate the microcirculation (flow and capillary density) and endothelial glycocalyx changes associated with the use of milrinone in children with septic shock, as well as their relationship with clinical variables and organ dysfunction.</p><p><strong>Methods: </strong>A prospective cohort study from February 2022 to January 2023 at a university hospital (Fundación Cardioinfantil-Instituto de Cardiología). Sublingual video microscopy was used to evaluate capillary density, microvascular flow rates and perfused boundary region (PBR-inverse parameter of glycocalyx thickness-abnormal if >2.0 microns). The primary outcome was the association between microcirculation and endothelial glycocalyx changes related to the use of milrinone.</p><p><strong>Results: </strong>A total of 140 children with a median age of two years [interquartile range (IQR) 0.58-12.1] were included. About 57.9% (81/140) of the patients received milrinone infusions. Twenty-four hours after receiving milrinone, the patients maintained functional capillary density (P<0.01) and capillary recruitment capacity (P=0.04) with no changes in capillary blood volume versus those who did not receive milrinone. Children under two years old who received milrinone had better 4-6-micron capillary density than older children [odds ratio (OR) 0.33; 95% confidence interval (95% CI): 0.12-0.89; P=0.02] and less endothelial glycocalyx degradation [adjusted OR (aOR) 0.34 95% CI: 0.11-0.99; P=0.04]. These changes persisted despite elevated ferritin (aOR 0.41; 95% CI: 0.18-0.93; P=0.03). Prolonged capillary refill and elevated lactate were correlated with microcirculation changes in both groups. The patients who died had the highest PBR levels (P=0.04).</p><p><strong>Conclusions: </strong>Children with septic shock who receive milrinone infusions have microcirculation changes compared with those who do not receive them. The group that received milrinone was found to maintain functional capillary density and capillary recruitment capacity and have less endothelial glycocalyx degradation 24 hours after administration. These changes were present despite the inflammatory response and were more significant in those under two years of age.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11148745/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141262928","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-31Epub Date: 2024-05-17DOI: 10.21037/tp-23-501
Pengpeng Wang, Jinhao Zhao, Lixing Tang, Chengyue Zhang, Xiaojian Yang, Yang Han, Wentong Ge
Background: Proboscis lateralis (PL) is a rare congenital malformation of the craniofacial structure. On the basis of 34 reported cases, Boo-Chai developed the first classification system in 1985 based on commonly associated anomalies of the eyes, palate, and lips. Sinonasal deformity is the most prevalent systemic abnormality associated with PL, accounting for 87.9%, and concomitant ocular anomalies account for 44-70%.
Case description: We report a case of PL in a 20-month-old female patient with a mass in the left medial canthal area, and ipsilateral symptomatic epiphora. The removal of the proboscis at 4 months without the reconstruction of the nasolacrimal duct resulted in secondary sequelae that lasted 16 months. A second operation by a multidisciplinary team released the pressure on the lacrimal sac and reconstructed the lacrimal system. External dacryocystorhinostomy (DCR) is performed through the original external incision aided by nasal endoscopic examination. The bony passage between the nasal cavity and the lacrimal sac was reconstructed, and nasal endoscopy revealed a wide opening in the nasal cavity of at least 6 mm. Follow ups ensured a patent nasal airway, without complications.
Conclusions: It is instructive to learn from this case that treatment plans for PL should consider associated ocular anomalies and lacrimal drainage reconstruction, following a comprehensive and multidisciplinary approach.
{"title":"A case report of proboscis lateralis: emphasis on the reconstruction of the lacrimal drainage system.","authors":"Pengpeng Wang, Jinhao Zhao, Lixing Tang, Chengyue Zhang, Xiaojian Yang, Yang Han, Wentong Ge","doi":"10.21037/tp-23-501","DOIUrl":"10.21037/tp-23-501","url":null,"abstract":"<p><strong>Background: </strong>Proboscis lateralis (PL) is a rare congenital malformation of the craniofacial structure. On the basis of 34 reported cases, Boo-Chai developed the first classification system in 1985 based on commonly associated anomalies of the eyes, palate, and lips. Sinonasal deformity is the most prevalent systemic abnormality associated with PL, accounting for 87.9%, and concomitant ocular anomalies account for 44-70%.</p><p><strong>Case description: </strong>We report a case of PL in a 20-month-old female patient with a mass in the left medial canthal area, and ipsilateral symptomatic epiphora. The removal of the proboscis at 4 months without the reconstruction of the nasolacrimal duct resulted in secondary sequelae that lasted 16 months. A second operation by a multidisciplinary team released the pressure on the lacrimal sac and reconstructed the lacrimal system. External dacryocystorhinostomy (DCR) is performed through the original external incision aided by nasal endoscopic examination. The bony passage between the nasal cavity and the lacrimal sac was reconstructed, and nasal endoscopy revealed a wide opening in the nasal cavity of at least 6 mm. Follow ups ensured a patent nasal airway, without complications.</p><p><strong>Conclusions: </strong>It is instructive to learn from this case that treatment plans for PL should consider associated ocular anomalies and lacrimal drainage reconstruction, following a comprehensive and multidisciplinary approach.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11148736/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141262657","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-31Epub Date: 2024-05-20DOI: 10.21037/tp-24-46
Antonio F Martinez-Monseny
{"title":"Unravelling short stature in pediatrics: the crucial role of genetic perspective.","authors":"Antonio F Martinez-Monseny","doi":"10.21037/tp-24-46","DOIUrl":"10.21037/tp-24-46","url":null,"abstract":"","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11148743/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141262941","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-31Epub Date: 2024-05-23DOI: 10.21037/tp-24-28
Sara C Arrigoni, Tjark Ebels
The presence of bilateral superior caval veins (bSCVs) could negatively influence the outcome of Fontan patients. In the setting of a bilateral bidirectional Glenn, the selective blood flow to the ipsilateral long with consequent flow stagnation in the connecting portion could lead to poor growth of the central portion of the pulmonary artery, potentially affecting the eligibility for Fontan completion and being associated with a higher incidence of thrombotic complications. Alternative surgical techniques have been described to perform a bidirectional cavopulmonary anastomosis in the presence of bSCVs aiming to achieve a balanced growth of the pulmonary bifurcation. The short-term results of these techniques such as the V- or Y-shape seem to be excellent; however, some anatomical settings could affect the feasibility of these techniques. The so-called "unifocalization" creates a configuration comparable to a "normal" bidirectional Glenn and could be a feasible alternative. However, the long-term results of this technique are not published yet. The positive effect of additional pulsatile pulmonary flow on pulmonary artery growth should be considered in case of bilateral bidirectional Glenn, despite the higher incidence of postoperative complications reported and the difficult calibration of the amount of additional flow. The role of computational fluid dynamic to simulate the surgical strategy in single ventricle patients is promising and could be worthwhile in the setting of bSCVs. In fact, the surgical techniques of bilateral bidirectional Glenn could be simulated testing their feasibility and allowing to identify the more favorable hemodynamic pattern, patient specific. This review article highlights the critical issues related to the presence of bSCVs in univentricular physiology, analyzing pros and cons of the different surgical techniques. Besides reviewing the literature, this manuscript focuses on the role of computational fluid simulation in identifying the most favorable surgical technique with an individualized approach, which could potentially improve the clinical outcome.
双侧腔上静脉(bSCV)的存在可能会对丰坦患者的预后产生负面影响。在双侧双向Glenn的情况下,选择性血流流向同侧长静脉,从而导致连接部分血流停滞,这可能导致肺动脉中央部分生长不良,潜在地影响完成Fontan手术的资格,并与血栓并发症的高发生率有关。有学者描述了在存在双SCV 的情况下进行双向腔肺吻合的其他外科技术,旨在实现肺动脉分叉的平衡生长。这些技术(如 V 形或 Y 形)的短期效果似乎很好;但是,一些解剖环境可能会影响这些技术的可行性。所谓的 "单焦化 "技术可创造出与 "正常 "双向格伦相当的结构,是一种可行的替代方法。然而,这种技术的长期结果尚未公布。尽管术后并发症的发生率较高,且难以校准额外的血流量,但在双侧双向格伦术中应考虑额外的搏动性肺动脉血流对肺动脉生长的积极影响。计算流体力学在模拟单心室患者手术策略中的作用很有前景,在双侧单心室心动图中也有应用价值。事实上,可以模拟双侧双向格伦的手术技术,测试其可行性,并根据患者的具体情况确定更有利的血流动力学模式。这篇综述文章强调了与单心室生理学中存在双侧壁心室有关的关键问题,分析了不同手术技术的利弊。除了回顾文献外,本稿件还重点介绍了计算流体模拟在确定最有利的手术技术方面的作用,这种个性化的方法有可能改善临床效果。
{"title":"Bilateral bidirectional cavopulmonary connection: a review of surgical techniques and clinical implications.","authors":"Sara C Arrigoni, Tjark Ebels","doi":"10.21037/tp-24-28","DOIUrl":"10.21037/tp-24-28","url":null,"abstract":"<p><p>The presence of bilateral superior caval veins (bSCVs) could negatively influence the outcome of Fontan patients. In the setting of a bilateral bidirectional Glenn, the selective blood flow to the ipsilateral long with consequent flow stagnation in the connecting portion could lead to poor growth of the central portion of the pulmonary artery, potentially affecting the eligibility for Fontan completion and being associated with a higher incidence of thrombotic complications. Alternative surgical techniques have been described to perform a bidirectional cavopulmonary anastomosis in the presence of bSCVs aiming to achieve a balanced growth of the pulmonary bifurcation. The short-term results of these techniques such as the V- or Y-shape seem to be excellent; however, some anatomical settings could affect the feasibility of these techniques. The so-called \"unifocalization\" creates a configuration comparable to a \"normal\" bidirectional Glenn and could be a feasible alternative. However, the long-term results of this technique are not published yet. The positive effect of additional pulsatile pulmonary flow on pulmonary artery growth should be considered in case of bilateral bidirectional Glenn, despite the higher incidence of postoperative complications reported and the difficult calibration of the amount of additional flow. The role of computational fluid dynamic to simulate the surgical strategy in single ventricle patients is promising and could be worthwhile in the setting of bSCVs. In fact, the surgical techniques of bilateral bidirectional Glenn could be simulated testing their feasibility and allowing to identify the more favorable hemodynamic pattern, patient specific. This review article highlights the critical issues related to the presence of bSCVs in univentricular physiology, analyzing pros and cons of the different surgical techniques. Besides reviewing the literature, this manuscript focuses on the role of computational fluid simulation in identifying the most favorable surgical technique with an individualized approach, which could potentially improve the clinical outcome.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11148731/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141262755","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-31Epub Date: 2024-05-17DOI: 10.21037/tp-23-569
Feng Zhu, Jieqian Zhu, Feifei Ji, Xianzang Huang, Yu Zhang
Background: Alport syndrome (AS) is a rare progressive hereditary kidney disease that is clinically principally associated with hematuria, proteinuria, and progressive renal dysfunction. This condition not only impairs renal function but also potentially affects auditory and ocular health, significantly impacting the patient's quality of life.
Case description: This article reports a young girl with AS, combined with dwarfism attributable to growth hormone (GH) deficiency, diagnosed at Wenzhou People's Hospital in 2019. The clinical data and diagnostic steps were retrospectively analyzed. Genetic testing showed that she carried a new mutation in the COL4A4 gene, c.2317_2318delAG (p.R773Gfs*14), classified as "pathogenic" under the criteria of the American College of Medical Genetics and Genomics (ACMG), confirming her AS diagnosis. Significantly, the patient's height was more than two standard deviations (SDs) below the average for children of her race, sex, and age. The peak GH level post-stimulation was below 5 ng/mL, coupled with a growth rate of less than 5 cm/year, leading to the diagnosis of GH deficiency. Consequently, recombinant human GH (rhGH) therapy was initiated.
Conclusions: After a year of rhGH treatment, we observed a notable increase in her height, without any adverse effects like elevated intracranial pressure, hypothyroidism, or worsening kidney function.
{"title":"A case report: Alport syndrome and growth hormone deficiency associated with a new <i>COL4A4</i> mutation.","authors":"Feng Zhu, Jieqian Zhu, Feifei Ji, Xianzang Huang, Yu Zhang","doi":"10.21037/tp-23-569","DOIUrl":"10.21037/tp-23-569","url":null,"abstract":"<p><strong>Background: </strong>Alport syndrome (AS) is a rare progressive hereditary kidney disease that is clinically principally associated with hematuria, proteinuria, and progressive renal dysfunction. This condition not only impairs renal function but also potentially affects auditory and ocular health, significantly impacting the patient's quality of life.</p><p><strong>Case description: </strong>This article reports a young girl with AS, combined with dwarfism attributable to growth hormone (GH) deficiency, diagnosed at Wenzhou People's Hospital in 2019. The clinical data and diagnostic steps were retrospectively analyzed. Genetic testing showed that she carried a new mutation in the <i>COL4A4</i> gene, c.2317_2318delAG (p.R773Gfs*14), classified as \"pathogenic\" under the criteria of the American College of Medical Genetics and Genomics (ACMG), confirming her AS diagnosis. Significantly, the patient's height was more than two standard deviations (SDs) below the average for children of her race, sex, and age. The peak GH level post-stimulation was below 5 ng/mL, coupled with a growth rate of less than 5 cm/year, leading to the diagnosis of GH deficiency. Consequently, recombinant human GH (rhGH) therapy was initiated.</p><p><strong>Conclusions: </strong>After a year of rhGH treatment, we observed a notable increase in her height, without any adverse effects like elevated intracranial pressure, hypothyroidism, or worsening kidney function.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11148740/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141262731","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: Diffuse large B-cell lymphoma (DLBCL) and Hodgkin's lymphoma (HL) are two completely different pathologic subtypes of lymphoma with distinctly different clinical presentations and treatment options. Thus, accurately differentiating between the two subtypes has important clinical implications. This study aimed to construct a radiomics model capable of distinguishing between DLBCL and HL based on enhanced computed tomography (CT) for the non-invasive diagnosis of lymphoma subtypes.
Methods: The clinical and imaging data of 16 patients confirmed to have DLBCL (33 lymphomas), and 50 patients confirmed to have HL (106 lymphomas) were retrospectively analyzed. The patients were completely randomized into a training set (n=107, DLBLC׃HL ratio: 23׃84) and a test set (n=32, DLBCL׃HL ratio: 10׃22). After multiple down-sampling, 2,264 radiomics features were automatically extracted by the application software. Feature selection was performed in the training set using Spearman's rank correlation coefficients, maximum correlation minimum redundancy, and the least absolute shrinkage and selection operator algorithm in that order. The features after selection were used to build radiomics models by logistic regression (LR) and quadratic discriminant analysis (QDA). We evaluated the model ability using receiver operating characteristic (ROC) curves and the DeLong test. Moreover, clinical indicators, such as gender, age, clinical stage, and lactate dehydrogenase (LDH), were collected and analyzed by univariate and multivariate LR analyses. The radiomics characteristics with clinical indicators that had independent influences on predicting the pathological subtypes were used to establish a comprehensive classification model.
Results: The analysis of the clinical data revealed that LDH can serve as a clinical indicator that has an independent influence on the prediction of HL and DLBCL. The results of the radiomics models were as follows: Radiomics_LR: area under the curve (AUC) =0.814 [95% confidence interval (CI): 0.628-0.999]; and Radiomics_QDA: AUC =0.841 (95% CI: 0.691-0.991). Following the inclusion of LDH as a clinical indicator in the analysis, the results of the comprehensive models were as follows: Radiomics + LDH_LR: AUC =0.768 (95% CI: 0.580-0.956); and Radiomics + LDH_QDA: AUC was 0.845 (95% CI: 0.695-0.996).
Conclusions: The models based on radiomics and clinical features were able to effectively distinguish DLBCL from HL. The model with the best overall performance was the Radiomics_LR model.
{"title":"Distinguishing diffuse large B-cell lymphoma from Hodgkin's lymphoma in children using an enhanced computed tomography radiomics approach.","authors":"Jiajun Si, Haoru Wang, Mingye Xie, Yanlin Yang, Fang Wang, Xin Chen, Ling He","doi":"10.21037/tp-23-586","DOIUrl":"10.21037/tp-23-586","url":null,"abstract":"<p><strong>Background: </strong>Diffuse large B-cell lymphoma (DLBCL) and Hodgkin's lymphoma (HL) are two completely different pathologic subtypes of lymphoma with distinctly different clinical presentations and treatment options. Thus, accurately differentiating between the two subtypes has important clinical implications. This study aimed to construct a radiomics model capable of distinguishing between DLBCL and HL based on enhanced computed tomography (CT) for the non-invasive diagnosis of lymphoma subtypes.</p><p><strong>Methods: </strong>The clinical and imaging data of 16 patients confirmed to have DLBCL (33 lymphomas), and 50 patients confirmed to have HL (106 lymphomas) were retrospectively analyzed. The patients were completely randomized into a training set (n=107, DLBLC׃HL ratio: 23׃84) and a test set (n=32, DLBCL׃HL ratio: 10׃22). After multiple down-sampling, 2,264 radiomics features were automatically extracted by the application software. Feature selection was performed in the training set using Spearman's rank correlation coefficients, maximum correlation minimum redundancy, and the least absolute shrinkage and selection operator algorithm in that order. The features after selection were used to build radiomics models by logistic regression (LR) and quadratic discriminant analysis (QDA). We evaluated the model ability using receiver operating characteristic (ROC) curves and the DeLong test. Moreover, clinical indicators, such as gender, age, clinical stage, and lactate dehydrogenase (LDH), were collected and analyzed by univariate and multivariate LR analyses. The radiomics characteristics with clinical indicators that had independent influences on predicting the pathological subtypes were used to establish a comprehensive classification model.</p><p><strong>Results: </strong>The analysis of the clinical data revealed that LDH can serve as a clinical indicator that has an independent influence on the prediction of HL and DLBCL. The results of the radiomics models were as follows: Radiomics_LR: area under the curve (AUC) =0.814 [95% confidence interval (CI): 0.628-0.999]; and Radiomics_QDA: AUC =0.841 (95% CI: 0.691-0.991). Following the inclusion of LDH as a clinical indicator in the analysis, the results of the comprehensive models were as follows: Radiomics + LDH_LR: AUC =0.768 (95% CI: 0.580-0.956); and Radiomics + LDH_QDA: AUC was 0.845 (95% CI: 0.695-0.996).</p><p><strong>Conclusions: </strong>The models based on radiomics and clinical features were able to effectively distinguish DLBCL from HL. The model with the best overall performance was the Radiomics_LR model.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11148730/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141262795","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Background: The calcium-binding protein 4 (CABP4) gene is a newly identified epilepsy-related gene that might be associated with a rare type of genetic focal epilepsy; that is, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). In vitro, mutant CABP4 causes an increased inward flow voltage of calcium ions and a significant increase in the electrical signal discharge in hippocampus neurons; however, the role of CABP4 in epilepsy has not yet been specifically described, and there is not yet a CABP4 mutant animal model recapitulating the epilepsy phenotype.
Methods: We introduced a human CABP4 missense mutation into the C57BL/6J mouse genome and generated a knock-in strain carrying a glycine-to-aspartic acid mutation in the gene. Quantitative real-time polymerase chain reaction (qRT-PCR) and Western blot were performed to evaluate the CABP4 expression level. Slice patch-clamp recording was carried out on pyramidal cells of prefrontal cortex layers II and III.
Results: The CABP4G155D/+ mutant mice were viable and born at an expected Mendelian ratio. Surprisingly, the heterozygous (HE) mice did not display either an abnormal appearance or an overt seizure phenotype, and there was no statistically significant difference between the HE and wild-type (WT) mice in terms of overall messenger RNA (mRNA) and protein expression. However, the HE mutant mice showed an imbalance in the amount of protein expressed in the brain regions. Additionally, the patch-clamp recordings from the HE mouse layer II/III cortical pyramidal cells revealed an increase in the frequency of micro-excitatory post-synaptic currents (mEPSCs) but no change in the amplitude was observed.
Conclusions: The findings of this study suggest that the CABP4 p.G155D mutation might be one of the mechanisms underlying seizure onset.
背景:钙结合蛋白4(CABP4)基因是一种新发现的癫痫相关基因,可能与一种罕见的遗传性局灶性癫痫有关,即常染色体显性夜间额叶癫痫(ADNFLE)。在体外,突变的CABP4会导致钙离子内流电压升高,海马神经元的电信号放电显著增加;然而,CABP4在癫痫中的作用尚未得到具体描述,也还没有一种CABP4突变动物模型能重现癫痫表型:方法:我们将人类 CABP4 错义突变引入 C57BL/6J 小鼠基因组,并产生了一个基因敲入品系,该品系携带有甘氨酸-天冬氨酸突变。研究人员通过实时定量聚合酶链反应(qRT-PCR)和Western印迹来评估CABP4的表达水平。对前额叶皮层 II 层和 III 层的锥体细胞进行切片贴片钳记录:结果:CABP4G155D/+突变小鼠存活率高,出生率符合预期的孟德尔比例。令人惊讶的是,杂合子(HE)小鼠既没有表现出异常的外观,也没有明显的癫痫发作表型,在整体信使核糖核酸(mRNA)和蛋白质表达方面,HE小鼠与野生型(WT)小鼠之间没有统计学意义上的显著差异。然而,HE突变体小鼠在脑区表达的蛋白质量不平衡。此外,对 HE 小鼠大脑皮层 II/III 锥体细胞的贴片钳记录显示,微兴奋突触后电流(mEPSCs)的频率增加,但振幅没有变化:本研究结果表明,CABP4 p.G155D突变可能是癫痫发作的机制之一。
{"title":"<i>CABP4</i> mutation in mice shows alteration in protein expression level and neuron discharge frequency.","authors":"Gang-An Shi, Ming-Juan Liang, Qin-Fei Miao, Xue-Ping Li, Wei-Feng Qiu, Tian-Qian Zeng, Qiong-Xiang Zhai, Zhi-Hong Chen","doi":"10.21037/tp-23-484","DOIUrl":"10.21037/tp-23-484","url":null,"abstract":"<p><strong>Background: </strong>The calcium-binding protein 4 (<i>CABP4</i>) gene is a newly identified epilepsy-related gene that might be associated with a rare type of genetic focal epilepsy; that is, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE). <i>In vitro</i>, mutant CABP4 causes an increased inward flow voltage of calcium ions and a significant increase in the electrical signal discharge in hippocampus neurons; however, the role of <i>CABP4</i> in epilepsy has not yet been specifically described, and there is not yet a CABP4 mutant animal model recapitulating the epilepsy phenotype.</p><p><strong>Methods: </strong>We introduced a human <i>CABP4</i> missense mutation into the C57BL/6J mouse genome and generated a knock-in strain carrying a glycine-to-aspartic acid mutation in the gene. Quantitative real-time polymerase chain reaction (qRT-PCR) and Western blot were performed to evaluate the <i>CABP4</i> expression level. Slice patch-clamp recording was carried out on pyramidal cells of prefrontal cortex layers II and III.</p><p><strong>Results: </strong>The <i>CABP4</i><sup>G155D/+</sup> mutant mice were viable and born at an expected Mendelian ratio. Surprisingly, the heterozygous (HE) mice did not display either an abnormal appearance or an overt seizure phenotype, and there was no statistically significant difference between the HE and wild-type (WT) mice in terms of overall messenger RNA (mRNA) and protein expression. However, the HE mutant mice showed an imbalance in the amount of protein expressed in the brain regions. Additionally, the patch-clamp recordings from the HE mouse layer II/III cortical pyramidal cells revealed an increase in the frequency of micro-excitatory post-synaptic currents (mEPSCs) but no change in the amplitude was observed.</p><p><strong>Conclusions: </strong>The findings of this study suggest that the <i>CABP4</i> p.G155D mutation might be one of the mechanisms underlying seizure onset.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11148741/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141262653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-31Epub Date: 2024-05-28DOI: 10.21037/tp-24-7
Fariba Navid, Jaclyn A Biegel
{"title":"Detection of pretreatment circulating tumor DNA as a biomarker of poor outcome in intermediate-risk rhabdomyosarcoma.","authors":"Fariba Navid, Jaclyn A Biegel","doi":"10.21037/tp-24-7","DOIUrl":"10.21037/tp-24-7","url":null,"abstract":"","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11148749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141262793","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-31Epub Date: 2024-05-24DOI: 10.21037/tp-24-53
Jiayu Wang, Qing Wang, Yi Wang, Yonghao Gui, Quan Lu, Yong Yin, Jianhua Zhang, Libo Wang, Xiaoyan Dong, Yingwen Wang, Yingzi Ye, Hong Xu, Danping Gu, Wen He, Guodong Ding, Xiaobo Zhang
Background: In 2023, China witnessed an earlier and more widespread outbreak of Mycoplasma pneumoniae pneumonia (MPP). To address this situation, an online training program was designed to enhance the knowledge of MPP among pediatricians in Shanghai, China.
Methods: An online training program on the diagnosis and treatment of MPP, guided by Kern's six-step approach, was developed by the Shanghai Pediatric Clinical Quality Control Center. A pre- and post-training survey was conducted using a 20-item self-administered questionnaire to investigate the pediatricians' knowledge of MPP. A linkage mechanism was established to match pretest/posttest questionnaires using personal identifiers. Paired t-tests and McNemar tests were performed to measure the differences, as appropriate, between pre- and post-training groups. A higher survey score indicated better knowledge.
Results: There were 289 participants performed pre- and post-tests. The average age of the respondents was 38.7 years (standard deviation: 8.9). Over 80% of the participants were primary (32.5%) and intermediate (47.8%) pediatricians. Those from specialized hospitals accounted for the highest proportion (41.5%). The post-training group achieved significantly higher total scores than the pre-training group (91.3 vs. 67.7, t=22.48, P<0.001), regardless of the professional titles or hospital levels (all P<0.001). The accuracy rates of each question increased significantly in the post-training group (all P<0.001).
Conclusions: The online training program effectively enhanced pediatricians' understanding of diagnosing and treating MPP. It is recommended to maintain continuous education and training targeting all healthcare providers.
背景:2023年,中国爆发了更早更广泛的肺炎支原体肺炎(MPP)。针对这一情况,我们设计了一个在线培训项目,以提高中国上海儿科医生对肺炎支原体肺炎的认识:方法:上海市儿科临床质量控制中心以克恩六步疗法为指导,开发了关于 MPP 诊断和治疗的在线培训项目。培训前和培训后,儿科医生通过20项自制问卷对MPP知识进行了调查。利用个人身份识别码建立了一个链接机制,以匹配培训前/后的问卷。酌情采用配对 t 检验和 McNemar 检验来衡量培训前和培训后两组之间的差异。调查结果:共有 289 人参加了培训前后的测试。受访者的平均年龄为 38.7 岁(标准差:8.9)。超过 80% 的参与者是初级(32.5%)和中级(47.8%)儿科医生。其中来自专科医院的比例最高(41.5%)。培训后组的总分明显高于培训前组(91.3 vs. 67.7,t=22.48,PConclusions:在线培训项目有效提高了儿科医生对 MPP 诊断和治疗的理解。建议针对所有医疗服务提供者持续开展教育和培训。
{"title":"Effectiveness of the six-step approach guided online training program to improve knowledge of <i>Mycoplasma pneumoniae</i> pneumonia among pediatricians: a pretest-posttest study.","authors":"Jiayu Wang, Qing Wang, Yi Wang, Yonghao Gui, Quan Lu, Yong Yin, Jianhua Zhang, Libo Wang, Xiaoyan Dong, Yingwen Wang, Yingzi Ye, Hong Xu, Danping Gu, Wen He, Guodong Ding, Xiaobo Zhang","doi":"10.21037/tp-24-53","DOIUrl":"10.21037/tp-24-53","url":null,"abstract":"<p><strong>Background: </strong>In 2023, China witnessed an earlier and more widespread outbreak of <i>Mycoplasma pneumoniae</i> pneumonia (MPP). To address this situation, an online training program was designed to enhance the knowledge of MPP among pediatricians in Shanghai, China.</p><p><strong>Methods: </strong>An online training program on the diagnosis and treatment of MPP, guided by Kern's six-step approach, was developed by the Shanghai Pediatric Clinical Quality Control Center. A pre- and post-training survey was conducted using a 20-item self-administered questionnaire to investigate the pediatricians' knowledge of MPP. A linkage mechanism was established to match pretest/posttest questionnaires using personal identifiers. Paired <i>t</i>-tests and McNemar tests were performed to measure the differences, as appropriate, between pre- and post-training groups. A higher survey score indicated better knowledge.</p><p><strong>Results: </strong>There were 289 participants performed pre- and post-tests. The average age of the respondents was 38.7 years (standard deviation: 8.9). Over 80% of the participants were primary (32.5%) and intermediate (47.8%) pediatricians. Those from specialized hospitals accounted for the highest proportion (41.5%). The post-training group achieved significantly higher total scores than the pre-training group (91.3 <i>vs.</i> 67.7, <i>t</i>=22.48, P<0.001), regardless of the professional titles or hospital levels (all P<0.001). The accuracy rates of each question increased significantly in the post-training group (all P<0.001).</p><p><strong>Conclusions: </strong>The online training program effectively enhanced pediatricians' understanding of diagnosing and treating MPP. It is recommended to maintain continuous education and training targeting all healthcare providers.</p>","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11148742/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141262802","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2024-05-31Epub Date: 2024-05-20DOI: 10.21037/tp-23-621
Chengpin Tao, Changkun Mao, Yongsheng Cao
Background: Duplicated kidneys, though rare, are common in pediatric urinary issues. For children with complete kidney duplication and symptoms or complications, surgery is often needed. Ureteroureterostomy (UU) is a common procedure for this condition. This study aims to evaluate and compare the clinical efficacy and safety of laparoscopic ureteroureterostomy (LUU) and open ureteroureterostomy (OUU) in the treatment of pediatric duplicated kidneys.
Methods: A retrospective study at Children's Hospital of Anhui Province from February 2017 to January 2023 included pediatric patients who underwent LUU or OUU for completely duplicated kidneys. Comparative measures included operative time, postoperative hospital stay, intraoperative blood loss, pre- and postoperative renal pelvis anteroposterior diameter, pre- and postoperative upper renal parenchymal thickness, pre- and postoperative upper ureteral diameter, and postoperative complications.
Results: There are 30 patients, 20 in the LUU group and 10 in the OUU group. All patients underwent surgery successfully, with no conversions to open surgery in the LUU group. Comparison between the LUU group (average age 3.7±3.4 years) and the OUU group (average age 1.6±1.3 years) showed that laparoscopic surgery had a mean duration of 178.8±60.71 min, intraoperative blood loss of 4.3±0.92 mL, drainage tube removal time of 1.8±0.6 days, and postoperative hospital stay of 4.2±2.2 days. In contrast, the OUU group had a mean surgery duration of 181.6±37.8 min, drainage tube removal time of 2.3±0.7 days, intraoperative blood loss of 6.4±4.06 mL, and postoperative hospital stay of 5.8±1.8 days. Although the LUU group had a shorter surgical duration, the difference was not statistically significant. However, intraoperative blood loss, drainage tube removal time, and postoperative hospital stay were significantly reduced in the LUU group, with statistical significance (P<0.05). After surgery, one case of urinary tract infection occurred in each group. Both groups had double-J stents placed postoperatively, which were removed cystoscopically 4-6 weeks later. Preoperative examinations showed no significant differences between the LUU and OUU groups in terms of upper renal pelvis anteroposterior diameter, upper renal ureteral diameter, and upper renal parenchymal thickness. However, in terms of postoperative recovery indicators, the LUU group outperformed the OUU group significantly, including upper renal pelvis anteroposterior diameter, upper renal ureteral diameter, and upper renal parenchymal thickness, with statistical significance (P<0.05). No hydronephrosis or worsening hydronephrosis was observed in the lower kidneys and ureters of the 30 patients postoperatively. Symptoms disappeared in patients with preoperative dribbling, and pain symptoms in the waist and abdomen relieved. No postoperative febrile urinary tract infections were observed.
{"title":"Comparative analysis of laparoscopic and open ureteroureterostomy for the treatment of pediatric duplicated kidneys: a clinical efficacy and safety study.","authors":"Chengpin Tao, Changkun Mao, Yongsheng Cao","doi":"10.21037/tp-23-621","DOIUrl":"10.21037/tp-23-621","url":null,"abstract":"<p><strong>Background: </strong>Duplicated kidneys, though rare, are common in pediatric urinary issues. For children with complete kidney duplication and symptoms or complications, surgery is often needed. Ureteroureterostomy (UU) is a common procedure for this condition. This study aims to evaluate and compare the clinical efficacy and safety of laparoscopic ureteroureterostomy (LUU) and open ureteroureterostomy (OUU) in the treatment of pediatric duplicated kidneys.</p><p><strong>Methods: </strong>A retrospective study at Children's Hospital of Anhui Province from February 2017 to January 2023 included pediatric patients who underwent LUU or OUU for completely duplicated kidneys. Comparative measures included operative time, postoperative hospital stay, intraoperative blood loss, pre- and postoperative renal pelvis anteroposterior diameter, pre- and postoperative upper renal parenchymal thickness, pre- and postoperative upper ureteral diameter, and postoperative complications.</p><p><strong>Results: </strong>There are 30 patients, 20 in the LUU group and 10 in the OUU group. All patients underwent surgery successfully, with no conversions to open surgery in the LUU group. Comparison between the LUU group (average age 3.7±3.4 years) and the OUU group (average age 1.6±1.3 years) showed that laparoscopic surgery had a mean duration of 178.8±60.71 min, intraoperative blood loss of 4.3±0.92 mL, drainage tube removal time of 1.8±0.6 days, and postoperative hospital stay of 4.2±2.2 days. In contrast, the OUU group had a mean surgery duration of 181.6±37.8 min, drainage tube removal time of 2.3±0.7 days, intraoperative blood loss of 6.4±4.06 mL, and postoperative hospital stay of 5.8±1.8 days. Although the LUU group had a shorter surgical duration, the difference was not statistically significant. However, intraoperative blood loss, drainage tube removal time, and postoperative hospital stay were significantly reduced in the LUU group, with statistical significance (P<0.05). After surgery, one case of urinary tract infection occurred in each group. Both groups had double-J stents placed postoperatively, which were removed cystoscopically 4-6 weeks later. Preoperative examinations showed no significant differences between the LUU and OUU groups in terms of upper renal pelvis anteroposterior diameter, upper renal ureteral diameter, and upper renal parenchymal thickness. However, in terms of postoperative recovery indicators, the LUU group outperformed the OUU group significantly, including upper renal pelvis anteroposterior diameter, upper renal ureteral diameter, and upper renal parenchymal thickness, with statistical significance (P<0.05). No hydronephrosis or worsening hydronephrosis was observed in the lower kidneys and ureters of the 30 patients postoperatively. Symptoms disappeared in patients with preoperative dribbling, and pain symptoms in the waist and abdomen relieved. No postoperative febrile urinary tract infections were observed.</p><p><st","PeriodicalId":23294,"journal":{"name":"Translational pediatrics","volume":null,"pages":null},"PeriodicalIF":2.0,"publicationDate":"2024-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11148748/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141262841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}