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The role of light exposure in infant circadian rhythm establishment: A scoping review perspective. 光照在婴儿昼夜节律建立中的作用:一个范围回顾的观点。
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-12-30 DOI: 10.1007/s00431-024-05951-3
Ee Yin Kok, Satvinder Kaur, Nurul Husna Mohd Shukri, Nurliyana Abdul Razak, Masaki Takahashi, Swee Chai Teoh, Janice Ee Fang Tay, Shigenobu Shibata

Environmental light exposure plays a role in the entrainment of the infant circadian rhythm, which is crucial for growth and development. This scoping review aims to evaluate existing literature linking the role of light exposure in the development of the infant circadian rhythm. This scoping review is conducted in accordance with the PRISMA-ScR guidelines. The search strategy was conducted in a total of six databases (PubMed, Cochrane Database of Systematic Reviews, Science Direct, Google Scholar, Taylor and Francis, and Wiley) as of August 2024. Reviews, narrative studies, observational studies, and experimental studies published from 2012 to 2024 were extracted. These studies discussed the role of light exposure on the development of infant circadian rhythm. A total of 25 studies were retrieved (3 observational studies, 6 experimental studies, and 16 reviews). Evidence showed that cycled lighting is beneficial for the entrainment of the infant circadian rhythm according to the 24-h light-dark cycle. Cycled lighting improved nighttime sleep and daytime wakefulness, promoting optimum growth and development. Limited experimental studies were conducted due to the ethical considerations of infants as study participants. Conclusions: Given the benefits of cycled lighting in the development of the circadian rhythm development, it should be implemented in both healthcare and home settings to promote optimum growth and development of the infant.

环境光暴露在婴儿昼夜节律的干扰中起着重要作用,这对生长发育至关重要。本综述的目的是评估现有的文献链接的作用,光暴露在婴儿昼夜节律的发展。该范围审查是根据PRISMA-ScR指南进行的。截至2024年8月,共在六个数据库(PubMed、Cochrane Database of Systematic Reviews、Science Direct、b谷歌Scholar、Taylor and Francis和Wiley)中进行了搜索策略。选取2012年至2024年发表的综述、叙述性研究、观察性研究和实验研究。这些研究讨论了光照在婴儿昼夜节律发育中的作用。共纳入25项研究(3项观察性研究、6项实验研究和16项综述)。有证据表明,根据24小时的光暗循环,循环照明有利于婴儿昼夜节律的引导。循环照明改善夜间睡眠和白天清醒,促进最佳生长和发育。由于婴儿作为研究参与者的伦理考虑,进行了有限的实验研究。结论:鉴于循环照明对昼夜节律发育的益处,应在医疗保健和家庭环境中实施,以促进婴儿的最佳生长发育。
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引用次数: 0
The impact of exposure to phthalates in thyroid function of children and adolescents: a systematic review. 邻苯二甲酸盐暴露对儿童和青少年甲状腺功能的影响:一项系统综述。
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-12-30 DOI: 10.1007/s00431-024-05939-z
Arminda Maia, Maria Augusta Vieira-Coelho

Phthalic acid esters, or phthalates, are plasticizers commonly used in the plastics industry and they are known for their endocrine-disrupting effects. Numerous epidemiological studies have been conducted to evaluate the effects of phthalate exposure on thyroid function, both in adults and children. However, there is still considerable debate surrounding this issue. Therefore, a systematic review was conducted to clarify existing evidence and offer new insights into the magnitude of this disruption and its potential consequences for children and adolescents' health. A comprehensive literature search using MEDLINE, Scopus, and Web of Science databases was performed. The inclusion criteria for the studies were the determination of regression coefficients between phthalates concentrations and thyroid levels, in children and adolescents. The quality assessment of the included studies was performed using the Newcastle Ottawa Scale for longitudinal studies and the Critical Appraisal Checklist for Analytical Cross-Sectional Studies scale for cross-sectional studies. Seventeen studies were included in this review, involving a total of 5616 participants, with similar phthalate levels across the diverse studies. Significant positive correlations between T3 (total and free) levels and phthalate exposure were found, as well as persistent negative associations between total-T4 levels and phthalate exposure. On the contrary, associations found regarding TSH and free-T4 did not show a consistent pattern. Conclusion: This review gathered enough evidence to conclude that exposure to phthalates causes an increase in T3 (total and free) levels and a decrease in total-T4 levels, which is consistent with previous animal studies. These findings highlight the importance of minimizing contact with plasticizers and microplastics in the environment, guaranteeing the safety of food products for the health of children and adolescents.

邻苯二甲酸酯或邻苯二甲酸盐是塑料工业中常用的增塑剂,它们以内分泌干扰作用而闻名。为了评估邻苯二甲酸盐暴露对成人和儿童甲状腺功能的影响,已经进行了大量流行病学研究。然而,围绕这个问题仍然存在相当大的争论。因此,进行了一项系统审查,以澄清现有证据,并就这种破坏的严重程度及其对儿童和青少年健康的潜在后果提供新的见解。使用MEDLINE、Scopus和Web of Science数据库进行全面的文献检索。研究的纳入标准是确定儿童和青少年邻苯二甲酸盐浓度与甲状腺水平之间的回归系数。对纳入研究的质量评估采用纵向研究的纽卡斯尔渥太华量表和横向研究的分析性横断面研究的关键评估清单量表。本综述纳入了17项研究,共涉及5616名参与者,不同研究的邻苯二甲酸盐水平相似。发现T3(总和游离)水平与邻苯二甲酸盐暴露之间存在显著的正相关,而总t4水平与邻苯二甲酸盐暴露之间存在持续的负相关。相反,关于TSH和游离t4的关联没有显示出一致的模式。结论:本综述收集了足够的证据,得出接触邻苯二甲酸盐会导致T3(总和游离)水平升高,总t4水平降低的结论,这与之前的动物研究一致。这些发现强调了尽量减少与环境中增塑剂和微塑料接触的重要性,保证了食品的安全,有利于儿童和青少年的健康。
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引用次数: 0
Ethical issues in fetal therapies of life-threatening malformations. 危及生命的畸形胎儿治疗中的伦理问题。
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-12-30 DOI: 10.1007/s00431-024-05922-8
Alexandra Benachi, Alexandre J Vivanti

Unlike any other medical field, fetal medicine addresses two patients: the fetus and the mother. Its primary goal is to improve neonatal outcomes, specifically by reducing mortality and morbidity, including long-term impacts, while minimizing risks to the mother. The aim of fetal interventions for life-threatening malformations is to decrease morbidity and mortality by mitigating the impact of the malformation on fetal growth and development. Although some randomized controlled trials have evaluated fetal medicine procedures, they have faced challenges such as the rarity of most conditions and ethical concerns related to clinical equipoise. Prematurity, an intrinsic risk of membrane puncture, remains a significant burden of fetal surgery, and maternal safety must always be prioritized when considering such procedures. Despite 50 years of research in fetal medicine, many questions remain, due to advancements in ultrasound technology and genetics, the inherent risks associated with fetal procedures, the lack of appropriate medical device for rare diseases and the cost associated with conditions that require complex multidisciplinary neonatal care. Justice and parental autonomy must be respected but the principle of non-maleficence should prevail.

与其他医学领域不同,胎儿医学针对两种患者:胎儿和母亲。其主要目标是改善新生儿结局,特别是通过降低死亡率和发病率,包括长期影响,同时尽量减少对母亲的风险。对危及生命的畸形进行胎儿干预的目的是通过减轻畸形对胎儿生长发育的影响来降低发病率和死亡率。虽然一些随机对照试验已经评估了胎儿医学程序,但它们面临着挑战,如大多数情况的罕见性和与临床平衡相关的伦理问题。早产,膜穿刺的内在风险,仍然是胎儿手术的一个重要负担,在考虑这种手术时,母亲的安全必须始终优先考虑。尽管在胎儿医学方面进行了50年的研究,但由于超声技术和遗传学的进步,与胎儿手术相关的固有风险,缺乏针对罕见疾病的适当医疗设备以及与需要复杂的多学科新生儿护理的条件相关的费用,许多问题仍然存在。正义和父母的自主权必须得到尊重,但非恶意原则应该占上风。
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引用次数: 0
Clinical features and molecular genetics of patients with RASopathies: expanding the phenotype with rare genes and novel variants. ras病患者的临床特征和分子遗传学:用罕见基因和新变异扩大表型。
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-12-27 DOI: 10.1007/s00431-024-05825-8
Ceren Yılmaz Uzman, Semra Gürsoy, Behzat Özkan, Gamze Vuran, Durdugül Ayyıldız Emecen, Özge Köprülü, Mertkan Mustafa Bilen, Filiz Hazan
<p><p>The RASopathies are a group of disorders resulting from a germline variant in the genes encoding the Ras/mitogen-activated protein kinase pathway. These disorders include Noonan syndrome (NS), cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome (LS), and neurofibromatosis type 1 (NF1), and have overlapping clinical features due to RAS/MAPK dysfunction. In this study, we aimed to describe the clinical and molecular features of patients exhibiting phenotypic manifestations consistent with RASopathies. The study included 149 patients from 146 unrelated families who were admitted between 2019 and 2023 with a clinical suspicion of RASopathy spectrum disorder. Clinical and laboratory characteristics of the patients at the time of the diagnosis were obtained from hospital records. Variant analysis of twenty-four RASopathy genes was performed using a targeted next-generation sequencing (NGS) panel, and the variants were classified according to American College of Medical Genetics and Genomics Standards and Guidelines recommendations. Pathogenic/likely pathogenic variants were detected in 39 out of 149 patients (26.1%). Thirty-two patients were diagnosed as NS (32/39; 82%). The variants detected in NS patients were PTPN11 (21/32; 65.6%), LZTR1 (3/32; 9.3%), SOS1 (2/32; 6.2%), RAF1 (2/32; 6.2%), RIT1 (2/32; 6.2%), KRAS (1/32; 3.1%), and RRAS (1/32; 3.1%) genes, respectively. The remaining patients were diagnosed with CS (2/39; 5.1%), NF1 (2/39; 5.1%), NF-NS (2/39; 5.1%), and CFC (1/39; 2.5%). We observed rare clinical findings including lymphangioma circumscriptum, Meckel's diverticulum, and omphalocele in three patients with PTPN11 gene variations. Additionally, we detected corpus callosum thickness in a patient with the SOS1 gene variant, which has not been previously described in NS. We also identified three novel variants in RIT1, BRAF, and NF1 genes.</p><p><strong>Conclusion: </strong>In this study, we described rare clinical manifestations and detected three novel variants in NF1, BRAF, and RIT1 genes. We propose that NGS technology enables the detection of variants in rare genes responsible for the etiology of RASopathies. The study, therefore, not only contributes to the existing literature but also expands the spectrum of genotype and phenotype of RASopathies.</p><p><strong>What is known: </strong>• RASopathies are a group of disorders caused by germline variants in genes involved in the Ras/mitogen-activated protein kinase (RAS/MAPK) pathway. • These disorders, including Noonan syndrome (NS), Cardiofaciocutaneous syndrome (CFC), Costello syndrome (CS), Legius syndrome, and Neurofibromatosis type 1 (NF1), share overlapping clinical features due to RAS/MAPK dysfunction. Molecular diagnosis of RASopathies is crucial for understanding the genetic basis and guiding clinical management, although the phenotype-genotype relationships remain incompletely defined.</p><p><strong>What is new: </strong>• This study provides new
Ras病是由编码Ras/丝裂原激活蛋白激酶途径的基因的种系变异引起的一组疾病。这些疾病包括Noonan综合征(NS)、心面部皮肤综合征(CFC)、Costello综合征(CS)、Legius综合征(LS)和1型神经纤维瘤病(NF1),由于RAS/MAPK功能障碍,这些疾病具有重叠的临床特征。在这项研究中,我们旨在描述表现出与RASopathies一致的表型表现的患者的临床和分子特征。该研究包括来自146个无血缘关系家庭的149名患者,他们在2019年至2023年期间入院,临床怀疑患有RASopathy spectrum disorder。诊断时患者的临床和实验室特征从医院记录中获得。使用靶向下一代测序(NGS)面板对24个RASopathy基因进行变异分析,并根据美国医学遗传学和基因组学学院标准和指南的建议对变异进行分类。149例患者中有39例(26.1%)检测到致病性/可能致病性变异。32例患者被诊断为NS (32/39;82%)。NS患者中检测到的变异有PTPN11 (21/32;65.6%), lztr1 (3/32;9.3%), sos1 (2/32;6.2%), raf1 (2/32;6.2%), rit1 (2/32;6.2%), kras (1/32;3.1%), RRAS (1/32;3.1%)基因。其余患者诊断为CS (2/39;5.1%), nf1 (2/39;5.1%), nf-ns (2/39;5.1%), CFC (1/39;2.5%)。我们在3例PTPN11基因变异患者中观察到罕见的临床表现,包括围状淋巴管瘤、梅克尔憩室和脐膨出。此外,我们检测了一名SOS1基因变异患者的胼胝体厚度,这在NS中从未被描述过。我们还发现了RIT1、BRAF和NF1基因的三个新变体。结论:在本研究中,我们描述了罕见的临床表现,并检测到NF1、BRAF和RIT1基因的三种新变体。我们建议NGS技术能够检测与RASopathies病因相关的罕见基因变异。因此,该研究不仅有助于现有文献,而且扩大了RASopathies的基因型和表型谱。•RASopathies是一组由参与Ras/丝裂原活化蛋白激酶(Ras/ MAPK)通路的基因的种系变异引起的疾病。•这些疾病,包括Noonan综合征(NS)、心面部皮肤综合征(CFC)、Costello综合征(CS)、Legius综合征和1型神经纤维瘤病(NF1),由于RAS/MAPK功能障碍而具有重叠的临床特征。尽管表型与基因型之间的关系仍不完全明确,但RASopathies的分子诊断对于理解遗传基础和指导临床管理至关重要。最新进展:•本研究通过对来自146个家族的149名患者进行研究,为RASopathies的分子和临床特征提供了新的见解,重点研究了24个RASopathies相关基因的遗传变异。在RIT1、BRAF和NF1基因中发现了三个新的变异,扩大了RASopathies的遗传谱。•此外,在PTPN11和SOS1基因变异的患者中分别报道了罕见的临床表现,如外缘淋巴管瘤和胼胝体厚度。这些观察结果为现有的知识体系提供了新的表型数据。
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引用次数: 0
Correction to: Non-restraint in pediatric ankle sprain: a non-inferiority randomized clinical trial. 纠正:儿童踝关节扭伤的非约束:一项非劣效性随机临床试验。
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-12-27 DOI: 10.1007/s00431-024-05932-6
Sara Suarez-Cabezas, Begoña Perez-Moneo, Maria Cabrerizo Ortiz, Monica Hortigüela Aparicio, Carmen Gómez Gérez, Elisa M Molanes-López, Ricardo Larrainzar-Garijo, Paula Vazquez Lopez
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引用次数: 0
Celiac in the twenty-first century-the change in BMI of children at diagnosis over the last two decades. 21世纪的乳糜泻——过去20年确诊时儿童BMI的变化。
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-12-26 DOI: 10.1007/s00431-024-05835-6
Rim Kasem Ali Sliman, Nili Stein, Yigal Elenberg Alter

This study examined the prevalence of different BMI categories among newly diagnosed pediatric celiac disease (CD) patients in Israel from 2002 to 2018. A retrospective cross-sectional study using the database of Clalit Health Services in Israel included 5520 newly diagnosed CD children aged 2-18 between 2002 and 2018. Data on BMI, gender, ethnicity, and socioeconomic status (SES) were collected and analyzed Of the 5520 CD patients, 57.5% were female, 39.7% had low SES, and 77.1% were Jewish. At diagnosis, 13.1% were underweight, 73% had normal BMI, 9.1% overweight, and 4.8% were obese. Underweight and obese patients tended to be older at diagnosis (9 years) compared with normal and overweight patients (8 years) (P < 0.001). A higher proportion of Arab patients were underweight, while more Jewish patients were obese. Lower SES was significantly associated with increased underweight risk (P < 0.001). Over time, diagnosed patients had improved SES and were less underweight (P < 0.001). Male gender increased obesity risk (OR 1.36 [95% CI 1.06-1.74], P = 0.017), while Arab ethnicity was protective for obesity (OR 0.67 [95% CI, (0.45-0.99)], P = 0.047)Conclusion: Underweight prevalence significantly decreased in the second decade, but no significant change in overweight and obesity was noted. Underweight was associated with older age at diagnosis, poverty, and Arab ethnicity. Obesity was associated with older age and was more frequent in Jewish and male patients. Physicians should have a low threshold for CD screening regardless of BMI status to enable timely diagnosis and treatment to prevent long-term health consequences. What Is Known: • Celiac disease is traditionally associated with underweight due to malabsorption, but recent reports suggest an increasing prevalence of overweight and obesity in pediatric patients at diagnosis What Is New: • This study found that underweight prevalence decreased significantly over time, while overweight and obesity prevalence remained unchanged. Underweight was associated with older age, poverty, and Arab ethnicity, while obesity was more common in Jewish and male patients.

本研究调查了2002年至2018年以色列新诊断的儿科乳糜泻(CD)患者中不同BMI类别的患病率。一项使用以色列Clalit健康服务数据库的回顾性横断面研究纳入了2002年至2018年期间5520名2-18岁新诊断的CD儿童。收集并分析了5520例CD患者的BMI、性别、种族和社会经济地位(SES)数据,其中57.5%为女性,39.7%为低SES, 77.1%为犹太人。诊断时,13.1%体重过轻,73% BMI正常,9.1%超重,4.8%肥胖。体重不足和肥胖患者在诊断时的年龄(9岁)比正常和超重患者(8岁)要大(P
{"title":"Celiac in the twenty-first century-the change in BMI of children at diagnosis over the last two decades.","authors":"Rim Kasem Ali Sliman, Nili Stein, Yigal Elenberg Alter","doi":"10.1007/s00431-024-05835-6","DOIUrl":"10.1007/s00431-024-05835-6","url":null,"abstract":"<p><p>This study examined the prevalence of different BMI categories among newly diagnosed pediatric celiac disease (CD) patients in Israel from 2002 to 2018. A retrospective cross-sectional study using the database of Clalit Health Services in Israel included 5520 newly diagnosed CD children aged 2-18 between 2002 and 2018. Data on BMI, gender, ethnicity, and socioeconomic status (SES) were collected and analyzed Of the 5520 CD patients, 57.5% were female, 39.7% had low SES, and 77.1% were Jewish. At diagnosis, 13.1% were underweight, 73% had normal BMI, 9.1% overweight, and 4.8% were obese. Underweight and obese patients tended to be older at diagnosis (9 years) compared with normal and overweight patients (8 years) (P < 0.001). A higher proportion of Arab patients were underweight, while more Jewish patients were obese. Lower SES was significantly associated with increased underweight risk (P < 0.001). Over time, diagnosed patients had improved SES and were less underweight (P < 0.001). Male gender increased obesity risk (OR 1.36 [95% CI 1.06-1.74], P = 0.017), while Arab ethnicity was protective for obesity (OR 0.67 [95% CI, (0.45-0.99)], P = 0.047)Conclusion: Underweight prevalence significantly decreased in the second decade, but no significant change in overweight and obesity was noted. Underweight was associated with older age at diagnosis, poverty, and Arab ethnicity. Obesity was associated with older age and was more frequent in Jewish and male patients. Physicians should have a low threshold for CD screening regardless of BMI status to enable timely diagnosis and treatment to prevent long-term health consequences. What Is Known: • Celiac disease is traditionally associated with underweight due to malabsorption, but recent reports suggest an increasing prevalence of overweight and obesity in pediatric patients at diagnosis What Is New: • This study found that underweight prevalence decreased significantly over time, while overweight and obesity prevalence remained unchanged. Underweight was associated with older age, poverty, and Arab ethnicity, while obesity was more common in Jewish and male patients.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"105"},"PeriodicalIF":3.0,"publicationDate":"2024-12-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11669609/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142893181","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Ethical issues in perinatal communication. 围产期沟通中的伦理问题。
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-12-26 DOI: 10.1007/s00431-024-05928-2
F Turchiano, A Romiti, R Tudisco, M Bisanti, V Polsinelli, V Penza, S Salvi, A Lanzone

Advancements in neonatal critical care continue, enhancing perinatal communication is essential to address the bioethical challenges faced. In perinatal care, various life-limiting or life-threatening conditions that address ethical issues can arise, both during the prenatal and postnatal phases. The diagnosis, prognosis, and potential treatment of these conditions significantly influence the lives of both the unborn child and the newborn, thereby directly impacting parental choices and experiences. This review arises from the necessity to highlight the importance of developing a structured framework concerning the critical components of perinatal care, with a specific focus on the pivotal role of communication. A standardized approach is recommended for counseling at the time of diagnosis of critical fetal conditions, to care for the couple and to support their decision making.

Conclusions: In perinatal critical clinical scenarios, it is imperative that healthcare providers communicate to parents using effective communication strategies, with standardized frameworks. Moreover, integrating perinatal palliative care into the treatment pathway for fetuses with limited life expectancy is essential, within referral centers.

What is known: • In perinatal care, different life-limiting or life-threatening conditions that address ethical issues can arise, both during the prenatal and postnatal phases. • The diagnosis, prognosis, and potential treatment of critical fetal and postnatal conditions significantly affect the lives of the child and parents.

What is new: • Communication has a pivotal role concerning the critical components of perinatal care. • A standardized approach is recommended for counseling at the time of diagnosis of critical fetal conditions, to care for the couple and to support their decision making.

新生儿重症监护的进步仍在继续,加强围产期沟通对于解决所面临的生物伦理挑战至关重要。在围产期护理中,可能会出现各种限制生命或危及生命的情况,这些情况涉及产前和产后阶段的伦理问题。这些疾病的诊断、预后和潜在治疗显著影响未出生婴儿和新生儿的生活,从而直接影响父母的选择和经历。这一审查源于有必要强调制定一个关于围产期护理关键组成部分的结构化框架的重要性,并特别关注沟通的关键作用。建议采用标准化的方法在诊断胎儿危重时进行咨询,照顾夫妇并支持他们的决策。结论:在围产期关键的临床情况下,医疗保健提供者必须使用有效的沟通策略和标准化的框架与父母沟通。此外,在转诊中心内,将围产期姑息治疗纳入预期寿命有限的胎儿的治疗途径至关重要。已知情况:•在围产期护理中,在产前和产后阶段可能出现不同的限制生命或危及生命的情况,这些情况涉及伦理问题。•胎儿和产后危重疾病的诊断、预后和潜在治疗显著影响儿童和父母的生命。新内容:•沟通在围产期护理的关键组成部分中起着关键作用。•建议采用标准化的方法,在诊断胎儿严重状况时进行咨询,照顾夫妇并支持他们的决策。
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引用次数: 0
Comparison of different eGFR formulas to measured glomerular filtration rate using iohexol in children and adolescents with mild chronic kidney disease. 不同eGFR配方对儿童和青少年轻度慢性肾病患者使用碘己醇测量肾小球滤过率的比较
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-12-26 DOI: 10.1007/s00431-024-05937-1
Sonja Golob Jančič, Janez Klavž, Martina Filipič, Mirjam Močnik, Nataša Marčun Varda

Estimated glomerular filtration rate (eGFR) based on different formulas is commonly used as a bedside tool to assess kidney function in children and young adults. The purpose of this study was to perform a measurement of glomerular filtration rate (mGFR) in children with chronic kidney disease (CKD) with a standard 5-point protocol using iohexol clearance and compare it to a simplified protocol for mGFR determination and to some of the most commonly used eGFR formulas. A 5-point standard protocol using iohexol clearance was used for determination of mGFR in 50 children with mild stages of CKD. The result was compared to 2- and 3-point sampling protocol as well as with some standard children eGFR formulas. We calculated the prediction performance for eGFR formulas to distinguish CKD1 and CKD 2 stages, formulas' accuracy, and cutoff values. Data were prospectively collected. All eGFR formulas exhibited a statistically significant positive correlation with mGFR. The best correlation was found with CKID2012 eGFR formula and with cystatin C-based eGFR formulas. The correlation between standard and simplified protocols for mGFR determination was also strong, while creatinine clearance did not prove to be a reliable method for estimating GFR. The error distribution with simplified protocols was not dispersed. The prediction value was strong for CKID2012 and bedside Schwartz formula. Conclusion: Fewer sampling points can be safely used for measuring GFR in children. eGFR formulas that are not based solely on creatinine should be considered more often in GFR estimation. What is Known? • Iohexol clearance is an established method of measuring GFR in children and adolescents using different protocols. • Estimating GFR in children and adolescents is troublesome and is done using different formulas with anthropometric and biochemical markers in children and adolescents. What is New? • Iohexol measurement with two or three blood withdrawals can reliably distinguish between CKD1 and CKD2 patients. • eGFR formulas have moderate reliability to predict distinguish between CKD1 and CKD2 patients, of which CKID2012 and bedside Schwartz formula were the most accurate in our study.

基于不同公式的估计肾小球滤过率(eGFR)通常被用作评估儿童和年轻人肾功能的床边工具。本研究的目的是使用碘hexol清除率的标准5点方案测量慢性肾脏疾病(CKD)儿童的肾小球滤过率(mGFR),并将其与mGFR测定的简化方案和一些最常用的eGFR公式进行比较。采用碘醇清除率5点标准方案测定50例轻度CKD患儿的mGFR。结果与2点和3点取样方案以及一些标准儿童eGFR公式进行了比较。我们计算了eGFR公式区分CKD1和ckd2分期的预测性能、公式的准确性和截止值。前瞻性地收集数据。所有eGFR公式均与mGFR呈统计学显著正相关。与CKID2012 eGFR配方和基于胱抑素c的eGFR配方相关性最好。测定mGFR的标准方案和简化方案之间的相关性也很强,而肌酐清除率并未被证明是估计GFR的可靠方法。简化协议的误差分布不分散。CKID2012和床边Schwartz公式的预测值较强。结论:减少取样点可安全测量儿童GFR。在估计GFR时,应更多地考虑不完全基于肌酐的eGFR公式。什么是已知的?•碘己醇清除率是儿童和青少年使用不同方案测量GFR的既定方法。•估计儿童和青少年的GFR是很麻烦的,在儿童和青少年中使用不同的人体测量和生化标记的公式。有什么新鲜事吗?•碘己醇测量与两次或三次抽血可以可靠地区分CKD1和CKD2患者。eGFR公式在预测CKD1和CKD2患者的区分方面具有中等可靠性,其中CKID2012和床边Schwartz公式在我们的研究中是最准确的。
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引用次数: 0
HOTTIP rs1859168 C > A polymorphism reduces neuroblastoma susceptibility in Chinese children. c>多态性降低中国儿童神经母细胞瘤易感性
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-12-24 DOI: 10.1007/s00431-024-05942-4
Ting Zhang, Huimin Yin, Jiejie Guo, Jiaming Chang, Mengjia Li, Jing He, Chunlei Zhou

Neuroblastoma, " a malignancy originating from neural crest cells, is most commonly diagnosed in children and adolescents. Polymorphisms within the long noncoding RNA (lncRNA) HOXA distal transcript antisense RNA (HOTTIP) are believed to have the capacity to alter an individual's susceptibility to various cancers. This study aimed to investigate the link between HOTTIP gene polymorphisms and neuroblastoma susceptibility. We identified the genotypes of two prevalent polymorphisms (rs3807598 and rs1859168) within the HOTTIP via the TaqMan assay in a cohort comprising 402 individuals diagnosed with neuroblastoma and 473 healthy controls. Logistic regression was used to evaluate the associations between the HOTTIP polymorphisms and the likelihood of neuroblastoma susceptibility. Additionally, the genotype-tissue expression (GTEx) database was used to investigate how these HOTTIP gene variations influence gene expression across different tissues. Our findings demonstrated a significant association between the rs1859168 C > A polymorphism and reduced neuroblastoma susceptibility (CA vs. CC: adjusted odds ratio (OR) = 0.55, 95% confidence interval (CI) = 0.40-0.74, P = 0.0001; CA/AA vs. CC: adjusted OR = 0.69, 95% CI = 0.53-0.91, P = 0.010). The additional stratified analysis revealed that the presence of rs1859168 CA/AA or two protective genotypes was associated with a lower susceptibility in specific subgroups, such as older children and girls. Expression quantitative trait locus (eQTL) analysis revealed that the rs1859168 CC genotype was related to high expression of the HOTTIP gene.

Conclusion: We found that HOTTIP gene polymorphisms were associated with a reduced likelihood of neuroblastoma in Chinese children. Further studies with large cohorts and diverse ethnicities are warranted to verify our results.

What is known: • Genetic variations can influence neuroblastoma susceptibility. HOTTIP gene polymorphisms may alter an individual's susceptibility to various cancers.

What is new: • HOTTIP gene polymorphisms were associated with a reduced risk of neuroblastoma in Chinese children.

神经母细胞瘤是一种起源于神经嵴细胞的恶性肿瘤,最常见于儿童和青少年。长链非编码RNA (lncRNA) HOXA远端转录反义RNA (HOTTIP)内的多态性被认为具有改变个体对各种癌症易感性的能力。本研究旨在探讨HOTTIP基因多态性与神经母细胞瘤易感性之间的关系。研究人员通过TaqMan分析确定了HOTTIP中两种流行多态性(rs3807598和rs1859168)的基因型,其中包括402名神经母细胞瘤患者和473名健康对照者。使用逻辑回归来评估HOTTIP多态性与神经母细胞瘤易感性可能性之间的关系。此外,使用基因型-组织表达(GTEx)数据库来研究这些HOTTIP基因变异如何影响不同组织中的基因表达。我们的研究结果表明rs1859168 C > a多态性与神经母细胞瘤易感性降低之间存在显著关联(CA vs. CC:校正优势比(OR) = 0.55, 95%可信区间(CI) = 0.40-0.74, P = 0.0001;CA / AA与CC:调整或= 0.69,95% CI -0.91 = 0.53, P = 0.010)。另外的分层分析显示,rs1859168 CA/AA或两种保护性基因型的存在与特定亚组(如年龄较大的儿童和女孩)的低易感性相关。表达数量性状位点(eQTL)分析显示,rs1859168 CC基因型与HOTTIP基因高表达相关。结论:我们发现HOTTIP基因多态性与中国儿童患神经母细胞瘤的可能性降低有关。有必要对大群体和不同种族进行进一步的研究来验证我们的结果。已知情况:•遗传变异可以影响神经母细胞瘤的易感性。HOTTIP基因多态性可能改变个体对各种癌症的易感性。最新进展:•HOTTIP基因多态性与中国儿童神经母细胞瘤风险降低相关。
{"title":"HOTTIP rs1859168 C > A polymorphism reduces neuroblastoma susceptibility in Chinese children.","authors":"Ting Zhang, Huimin Yin, Jiejie Guo, Jiaming Chang, Mengjia Li, Jing He, Chunlei Zhou","doi":"10.1007/s00431-024-05942-4","DOIUrl":"10.1007/s00431-024-05942-4","url":null,"abstract":"<p><p>Neuroblastoma, \" a malignancy originating from neural crest cells, is most commonly diagnosed in children and adolescents. Polymorphisms within the long noncoding RNA (lncRNA) HOXA distal transcript antisense RNA (HOTTIP) are believed to have the capacity to alter an individual's susceptibility to various cancers. This study aimed to investigate the link between HOTTIP gene polymorphisms and neuroblastoma susceptibility. We identified the genotypes of two prevalent polymorphisms (rs3807598 and rs1859168) within the HOTTIP via the TaqMan assay in a cohort comprising 402 individuals diagnosed with neuroblastoma and 473 healthy controls. Logistic regression was used to evaluate the associations between the HOTTIP polymorphisms and the likelihood of neuroblastoma susceptibility. Additionally, the genotype-tissue expression (GTEx) database was used to investigate how these HOTTIP gene variations influence gene expression across different tissues. Our findings demonstrated a significant association between the rs1859168 C > A polymorphism and reduced neuroblastoma susceptibility (CA vs. CC: adjusted odds ratio (OR) = 0.55, 95% confidence interval (CI) = 0.40-0.74, P = 0.0001; CA/AA vs. CC: adjusted OR = 0.69, 95% CI = 0.53-0.91, P = 0.010). The additional stratified analysis revealed that the presence of rs1859168 CA/AA or two protective genotypes was associated with a lower susceptibility in specific subgroups, such as older children and girls. Expression quantitative trait locus (eQTL) analysis revealed that the rs1859168 CC genotype was related to high expression of the HOTTIP gene.</p><p><strong>Conclusion: </strong>We found that HOTTIP gene polymorphisms were associated with a reduced likelihood of neuroblastoma in Chinese children. Further studies with large cohorts and diverse ethnicities are warranted to verify our results.</p><p><strong>What is known: </strong>• Genetic variations can influence neuroblastoma susceptibility. HOTTIP gene polymorphisms may alter an individual's susceptibility to various cancers.</p><p><strong>What is new: </strong>• HOTTIP gene polymorphisms were associated with a reduced risk of neuroblastoma in Chinese children.</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"104"},"PeriodicalIF":3.0,"publicationDate":"2024-12-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142880653","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Reference values for the adolescent post version of the Postconcussion Symptom Inventory from the German general population. 来自德国普通人群的青少年脑震荡后症状量表的参考价值。
IF 3 3区 医学 Q1 PEDIATRICS Pub Date : 2024-12-23 DOI: 10.1007/s00431-024-05906-8
Marina Zeldovich, Leonie Krol, Dagmar Timmermann, Gerard Gioia, Katrin Cunitz, Anna Buchheim, Nicole von Steinbuechel

The present study aims at providing reference values from the general pediatric population for the German version of the 21-item self-report post version of the Postconcussion Symptom Inventory for adolescents aged 13-17 years (PCSI-SR13) following pediatric traumatic brain injury (pTBI). A total of N = 950 adolescents completed an adapted version of the PCSI-SR13. Prior to establishing reference values using percentiles, psychometric properties (i.e., reliability and factorial validity) and regression analyses were examined to identify factors contributing to PCSI-SR13 scores. In addition, construct assessment in the general population sample was compared to that in the pTBI sample (N = 234) using measurement invariance analyses and direct comparisons at the score levels. The results indicate good reliability (Cronbach's α and McDonald's ω of 0.97 each). The four-factor structure covering physical, emotional, cognitive, and fatigue symptom groups could be replicated with χ2(183) = 995.96, p < 0.001, χ2/df = 5.44, CFI = 0.99, TLI = 0.98, RMSEA (90% CI) = 0.068 (0.064, 0.073), SRMR = 0.03. With minor restrictions, the assessment of symptoms was comparable between the general population and the pTBI samples. Participants in the pTBI sample reported a significantly higher symptom burden than those in the general population sample. Reference values were provided using the total sample without further stratification. Conclusion: For the German post version of the PCSI-SR13, reference values are now available for direct score comparisons and for drawing conclusions about the clinical relevance of the reported symptoms, while considering the prevalence in a comparable general population without a history of pTBI.Trial registration: The study is retrospectively registered in the German Clinical Trials Register and in the International Clinical Trials Registry Platform (ID DRKS00032854).

本研究旨在为13-17岁青少年脑震荡后症状量表(PCSI-SR13)德文版21项自我报告提供一般儿科人群的参考价值。共有N = 950名青少年完成了改编版的PCSI-SR13。在使用百分位数建立参考值之前,我们检查了心理测量特性(即信度和析因效度)和回归分析,以确定影响pci - sr13分数的因素。此外,利用测量不变性分析和得分水平的直接比较,将一般人群样本中的构建性评估与pTBI样本(N = 234)中的构建性评估进行比较。结果表明信度良好(Cronbach’s α和McDonald’s ω均为0.97)。四因素结构涵盖身体、情绪、认知和疲劳症状组,χ2(183) = 995.96, p 2/df = 5.44, CFI = 0.99, TLI = 0.98, RMSEA (90% CI) = 0.068 (0.064, 0.073), SRMR = 0.03。除了轻微的限制,一般人群和pTBI样本之间的症状评估具有可比性。pTBI样本的参与者报告的症状负担明显高于一般人群样本。使用不进一步分层的总样本提供参考值。结论:对于德国post版本的PCSI-SR13,现在可以使用参考值进行直接评分比较,并得出关于所报告症状的临床相关性的结论,同时考虑在没有pTBI病史的可比普通人群中的患病率。试验注册:该研究在德国临床试验注册和国际临床试验注册平台(ID DRKS00032854)回顾性注册。
{"title":"Reference values for the adolescent post version of the Postconcussion Symptom Inventory from the German general population.","authors":"Marina Zeldovich, Leonie Krol, Dagmar Timmermann, Gerard Gioia, Katrin Cunitz, Anna Buchheim, Nicole von Steinbuechel","doi":"10.1007/s00431-024-05906-8","DOIUrl":"10.1007/s00431-024-05906-8","url":null,"abstract":"<p><p>The present study aims at providing reference values from the general pediatric population for the German version of the 21-item self-report post version of the Postconcussion Symptom Inventory for adolescents aged 13-17 years (PCSI-SR13) following pediatric traumatic brain injury (pTBI). A total of N = 950 adolescents completed an adapted version of the PCSI-SR13. Prior to establishing reference values using percentiles, psychometric properties (i.e., reliability and factorial validity) and regression analyses were examined to identify factors contributing to PCSI-SR13 scores. In addition, construct assessment in the general population sample was compared to that in the pTBI sample (N = 234) using measurement invariance analyses and direct comparisons at the score levels. The results indicate good reliability (Cronbach's α and McDonald's ω of 0.97 each). The four-factor structure covering physical, emotional, cognitive, and fatigue symptom groups could be replicated with χ<sup>2</sup>(183) = 995.96, p < 0.001, χ<sup>2</sup>/df = 5.44, CFI = 0.99, TLI = 0.98, RMSEA (90% CI) = 0.068 (0.064, 0.073), SRMR = 0.03. With minor restrictions, the assessment of symptoms was comparable between the general population and the pTBI samples. Participants in the pTBI sample reported a significantly higher symptom burden than those in the general population sample. Reference values were provided using the total sample without further stratification. Conclusion: For the German post version of the PCSI-SR13, reference values are now available for direct score comparisons and for drawing conclusions about the clinical relevance of the reported symptoms, while considering the prevalence in a comparable general population without a history of pTBI.Trial registration: The study is retrospectively registered in the German Clinical Trials Register and in the International Clinical Trials Registry Platform (ID DRKS00032854).</p>","PeriodicalId":11997,"journal":{"name":"European Journal of Pediatrics","volume":"184 1","pages":"103"},"PeriodicalIF":3.0,"publicationDate":"2024-12-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11666766/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142876443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
期刊
European Journal of Pediatrics
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