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Efficacy of videogames and exergames in pediatric neurorehabilitation: a systematic review. 电子游戏和外部游戏在儿科神经康复中的功效:系统性综述。
IF 1 Q3 PEDIATRICS Pub Date : 2024-10-01 Epub Date: 2023-06-16 DOI: 10.23736/S2724-5276.23.07146-X
Agata Polizzi, Sergio Rinella, Martino Ruggieri, Amalia E Gentile, Cristiano M Verrelli, Marco Iosa

Introduction: In recent years, the rehabilitation of children with neurological disorders has taken into account the possibility of using videogaming consoles and virtual reality systems to make children's therapy more enjoyable, motivating, participated and effective. This study aims at conducting a systematic review about the use and the efficacy of digital games in pediatric neurorehabilitation.

Evidence acquisition: In accordance with the PRISMA approach, a rather wide-ranging search was conducted on PubMed, Scopus, and Web of Science databases by using different combinations of keywords based on MeSH terms.

Evidence synthesis: Fifty-five papers have been included into this review, namely, 38 original studies and 17 reviews. The total number of children and adolescents is 573, with 58% of them being affected by cerebral palsy. Despite a wide variability in the adopted protocols, devices, assessment tools, and a more frequent focus on motor aspects than on cognitive ones, the results of the majority of the analyzed studies support the safety (i.e., absence of severe adverse effects) and efficacy of the videogame-based therapy.

Conclusions: Videogames, when administered by means of commercial consoles or ad-hoc digital systems, seem to be a valid support for physical therapy. Further researchers are needed to deeply investigate the role of this approach in cognitive therapy and cognitive outcomes.

简介近年来,神经系统疾病患儿的康复治疗已考虑到使用视频游戏机和虚拟现实系统的可能性,以使患儿的治疗更加愉悦、更具激励性、参与性和有效性。本研究旨在对数字游戏在儿科神经康复中的应用和功效进行系统性综述:证据综述:根据 PRISMA 方法,通过使用基于 MeSH 术语的不同关键词组合,在 PubMed、Scopus 和 Web of Science 数据库中进行了范围相当广泛的检索:本综述共纳入 55 篇论文,即 38 篇原创研究和 17 篇综述。研究对象包括 573 名儿童和青少年,其中 58% 为脑瘫患者。尽管所采用的方案、设备和评估工具存在很大差异,而且对运动方面的关注多于对认知方面的关注,但大多数分析研究的结果都支持以视频游戏为基础的疗法的安全性(即无严重不良反应)和有效性:结论:通过商业控制台或临时数字系统实施的视频游戏似乎是物理治疗的有效辅助手段。需要更多的研究人员深入研究这种方法在认知治疗和认知结果中的作用。
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引用次数: 0
Epithelioid angiosarcoma occurring in the lower jaw of infants. 发生在婴儿下颌的上皮样血管肉瘤。
IF 1 Q3 PEDIATRICS Pub Date : 2024-10-01 Epub Date: 2024-05-16 DOI: 10.23736/S2724-5276.24.07578-5
Gun H Kee, Ran Huo
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引用次数: 0
Perspectives on managing non-communicable diseases in pediatric health using artificial intelligence. 利用人工智能管理儿科非传染性疾病的视角。
IF 1 Q3 PEDIATRICS Pub Date : 2024-10-01 Epub Date: 2024-06-04 DOI: 10.23736/S2724-5276.24.07600-6
Gianvincenzo Zuccotti, Valeria Calcaterra
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引用次数: 0
Effect of targeted responsibility system nursing combined with psychological intervention on compliance and complications of patients with autologous nasal septum and ear cartilage transplantation. 目标责任制护理联合心理干预对自体鼻中隔和耳软骨移植患者依从性和并发症的影响。
IF 1 Q3 PEDIATRICS Pub Date : 2024-10-01 Epub Date: 2023-06-07 DOI: 10.23736/S2724-5276.23.07105-7
Wei Lin, Falan Hong

Background: The purpose was to explore the effect of targeted responsibility system nursing combined with psychological intervention on compliance and complications of patients with autologous nasal septum cartilage and ear cartilage transplantation filling.

Methods: A retrospective analysis of the clinical data of 80 patients who underwent rhinoplasty with autologous septal cartilage and ear cartilage graft filling was conducted. Patients before the implementation of the "targeted accountable care combined with psychological intervention" program from January 2020 to December 2020 were set up as the control group (N.=40), and patients after the implementation of the program from January 2021 to December 2021 were set up as the study group (N.=40). The Hamilton Anxiety Scale (HAMA), Lund-Kennedy Endoscopy Score, Hamilton Depression Scale (HAMD), treatment compliance, and complications were compared between the two groups.

Results: At two weeks postoperatively, HAMA and HAMD were lower in the study group than in the control group (t=9.087, 9.265, P<0.05), and bilateral Lund-Kennedy scores were lower in the study group than in the control group (t=8.761, 10.267, P<0.05). The study group had a higher compliance excellence rate (75.00% vs. 52.50%) than the control group (χ2=4.021, P<0.05) and a lower complication rate (7.50% vs. 27.50%) than the control group (χ2=4.242, P<0.05).

Conclusions: Targeted accountable care combined with psychological intervention can alleviate negative emotions in patients with nasal septum cartilage and ear cartilage graft filling, reduce the risk of postoperative soft tissue edema and other complications, and improve patient compliance with treatment.

背景:目的探讨针对性责任制护理联合心理干预对自体鼻中隔软骨、耳软骨移植填充术患者依从性及并发症的影响:目的:探讨针对性责任制护理结合心理干预对自体鼻中隔软骨和耳软骨移植填充术患者依从性和并发症的影响:对80例行自体鼻中隔软骨、耳软骨移植填充鼻整形术患者的临床资料进行回顾性分析。将 2020 年 1 月至 2020 年 12 月实施 "针对性责任护理结合心理干预 "方案前的患者设为对照组(40 例),将 2021 年 1 月至 2021 年 12 月实施该方案后的患者设为研究组(40 例)。比较两组患者的汉密尔顿焦虑量表(HAMA)、伦德-肯尼迪内镜评分、汉密尔顿抑郁量表(HAMD)、治疗依从性和并发症:结果:术后两周,研究组的HAMA和HAMD低于对照组(t=9.087,9.265,P2=4.021,P2=4.242,PC结论:有针对性的责任制护理结合心理干预可以缓解鼻中隔软骨和耳软骨移植填充患者的负面情绪,降低术后软组织水肿等并发症的风险,提高患者的治疗依从性。
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引用次数: 0
Extended-hearing targeted screening for congenital cytomegalovirus infection. 先天性巨细胞病毒感染的扩展听力定向筛查。
IF 1 Q3 PEDIATRICS Pub Date : 2024-10-01 Epub Date: 2021-05-31 DOI: 10.23736/S2724-5276.21.06287-X
Francesca Forli, Francesco Lazzerini, Rachele Canelli, Francesca Lorenzoni, Beatrice Franciosi, Stefano Berrettini, Luca Bruschini

Background: The importance of neonatal screening for congenital cytomegalovirus infection (cCMV) is widely shared in the world scientific literature. However, currently, no programs for universal neonatal screening for cCMV have been reported in the literature, and only a few experiences of hearing targeted cCMV screening have been published. In the Tuscany Region, Italy, screening for cCMV has been mandatory since 2008 for each newborn that resulted as "refer" at the Transient Evoked Otoacoustics Emissions (TEOAE) Test, and in our university hospital since 2012, it has been extended to some categories at risk of cCMV.

Methods: We present the results of the protocol for cCMV screening adopted at our Institution since 2012. From 2012 to 2017, 1615 newborns underwent cCMV screening. Twenty-five cases were positive for cCMV, (1.54% of all the newborn screened for cCMV and 0.19% of infants submitted to newborn hearing screening).

Results: Nineteen of the children (76%) had normal hearing, while 6 (24%) had a hearing deficit of variable degree. 2/25 (8%) cases presented a progression of the hearing deficit in the first months of life and no children had a late onset or fluctuating hearing loss.

Conclusions: Our findings show how cCMV screening in newborns that resulted "refer" at TEOAE allows the detection of many cases; but many are still missed. It would be, therefore, important to adopt a universal newborn cCMV screening program or a program extended to newborns at higher risk.

背景:新生儿先天性巨细胞病毒感染(cCMV)筛查的重要性在世界科学文献中得到广泛认同。然而,目前还没有文献报道过新生儿巨细胞病毒普遍筛查的计划,只有少数有针对性的巨细胞病毒听力筛查经验。在意大利托斯卡纳大区,自 2008 年起,瞬态诱发耳声发射(TEOAE)测试结果为 "参考 "的新生儿必须接受 cCMV 筛查:我们介绍了本院自 2012 年起采用的 cCMV 筛查方案的结果:从 2012 年到 2017 年,共有 1615 名新生儿接受了 cCMV 筛查。其中 25 例为 cCMV 阳性(占所有接受 cCMV 筛查的新生儿的 1.54%,占接受新生儿听力筛查的婴儿的 0.19%)。其中 19 名儿童(76%)听力正常,6 名儿童(24%)有不同程度的听力障碍。2/25(8%)例患儿在出生后的头几个月出现听力障碍,没有患儿出现迟发性或波动性听力损失:我们的研究结果表明,对转诊至 TEOAE 的新生儿进行 cCMV 筛查可发现许多病例,但仍有许多病例被漏诊。因此,采用普遍的新生儿 cCMV 筛查计划或将该计划扩展至高风险新生儿非常重要。
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引用次数: 0
Dynamic versus static cast immobilization in children aged 6 to 24 months with developmental dysplasia of the hip treated by closed reduction. 对髋关节发育不良的 6 至 24 个月儿童进行动态与静态石膏固定的闭合复位治疗。
IF 1 Q3 PEDIATRICS Pub Date : 2024-10-01 Epub Date: 2021-10-21 DOI: 10.23736/S2724-5276.21.06268-6
Liu Yanhan, Federico Canavese, Li Yichang, Hong Kai, Li Jingchun, Xun Fuxin, Xu Hongwen

Background: The aim of this study was to compare the effects of two types of cast immobilization (human position cast and dynamic cast) on hip development in children with Developmental dysplasia of the hip (DDH) after closed reduction (CR).

Methods: A retrospective study of 60 children (64 hips) with DDH who underwent CR and cast immobilization between January 2015 and December 2016 at our Institution was performed. The average age at the time of CR was 14.6 months (range, 6.1-23.5). Fifty-seven females and 3 males were included. According to the technique of cast immobilization, two groups of patients could be identified: patients with DDH managed by human position cast immobilization (group A: 32 patients, 34 hips) and patients with DDH treated by dynamic cast immobilization (group B: 28 patients, 30 hips). Hip joint distance (HJD) after CR was measured on MRI. Acetabular Index (AI) and Acetabular Depth Radio (ADR) were measured of anterior-posterior (AP) radiographs before and 3 months after CR; AI and central edge angle (CEA) were measured last follow-up AP radiographs. The presence of subluxation or dislocation and avascular necrosis (AVN) at the last follow-up visit was also evaluated.

Results: The patients were comparable regarding to sex, side, age, Tönnis degree, AI, and ADR before the reduction between two groups. There was no significant difference in HJD improvement between the two groups 6 weeks following closed reduction. The AI (27.5±5.1°) of group B was significantly lower than those of group A (31±4.9°) (P=0.03) when cast was removed 3 months after CR. At the last follow-up, the incidence of AVN was similar between the two groups of patients (group A: 11.8% versus group B: 13.3%), and the incidence of subluxation or dislocation (group A: 8.8% versus group B: 10%). At last follow-up visit, the AI (23.7±5.4°) in group B was significantly lower than in group A (26.9±4.1°) (P=0.02).

Conclusions: Dynamic cast immobilization promotes acetabular development following CR in patients aged 6 to 24 months with DDH. Dynamic cast immobilization does not increase the risk of dislocation or subluxation, nor of AVN.

背景:比较两种石膏固定方式(人体位石膏和动态石膏)对髋关节发育不良患儿髋关节发育的影响:比较两种石膏固定方式(人体位石膏和动态石膏)对闭合复位术(CR)后髋关节发育不良(DDH)患儿髋关节发育的影响:本院对2015年1月至2016年12月期间接受闭合复位术和石膏固定的60名DDH患儿(64髋)进行了回顾性研究。接受 CR 时的平均年龄为 14.6 个月(6.1-23.5 个月)。其中女性 57 例,男性 3 例。根据石膏固定技术,可将患者分为两组:采用人体位石膏固定的 DDH 患者(A 组:32 名患者,34 个髋关节)和采用动态石膏固定的 DDH 患者(B 组:28 名患者,30 个髋关节)。MRI 对 CR 后的髋关节距离(HJD)进行了测量。髋臼指数(AI)和髋臼深度无线电(ADR)是在CR前和CR后3个月的前后位(AP)X光片上测量的;AI和中心边缘角(CEA)是在最后一次随访的AP X光片上测量的。此外,还评估了最后一次随访时是否存在脱位或半脱位以及血管性坏死(AVN):两组患者在性别、侧位、年龄、Tönnis程度、AI和减径前ADR方面具有可比性。闭合复位术后 6 周,两组患者的 HJD 改善情况无明显差异。CR 术后 3 个月拆除石膏时,B 组的 AI(27.5±5.1°)明显低于 A 组(31±4.9°)(P=0.03)。在最后一次随访中,两组患者的 AVN 发生率相似(A 组:11.8%,B 组:13.3%),半脱位或脱位发生率相似(A 组:8.8%,B 组:10%)。在最后一次随访时,B 组的 AI(23.7±5.4°)明显低于 A 组(26.9±4.1°)(P=0.02):结论:对于年龄在6至24个月的DDH患者,动态石膏固定可促进CR后的髋臼发育。动态石膏固定不会增加脱位或半脱位的风险,也不会增加AVN的风险。
{"title":"Dynamic versus static cast immobilization in children aged 6 to 24 months with developmental dysplasia of the hip treated by closed reduction.","authors":"Liu Yanhan, Federico Canavese, Li Yichang, Hong Kai, Li Jingchun, Xun Fuxin, Xu Hongwen","doi":"10.23736/S2724-5276.21.06268-6","DOIUrl":"10.23736/S2724-5276.21.06268-6","url":null,"abstract":"<p><strong>Background: </strong>The aim of this study was to compare the effects of two types of cast immobilization (human position cast and dynamic cast) on hip development in children with Developmental dysplasia of the hip (DDH) after closed reduction (CR).</p><p><strong>Methods: </strong>A retrospective study of 60 children (64 hips) with DDH who underwent CR and cast immobilization between January 2015 and December 2016 at our Institution was performed. The average age at the time of CR was 14.6 months (range, 6.1-23.5). Fifty-seven females and 3 males were included. According to the technique of cast immobilization, two groups of patients could be identified: patients with DDH managed by human position cast immobilization (group A: 32 patients, 34 hips) and patients with DDH treated by dynamic cast immobilization (group B: 28 patients, 30 hips). Hip joint distance (HJD) after CR was measured on MRI. Acetabular Index (AI) and Acetabular Depth Radio (ADR) were measured of anterior-posterior (AP) radiographs before and 3 months after CR; AI and central edge angle (CEA) were measured last follow-up AP radiographs. The presence of subluxation or dislocation and avascular necrosis (AVN) at the last follow-up visit was also evaluated.</p><p><strong>Results: </strong>The patients were comparable regarding to sex, side, age, Tönnis degree, AI, and ADR before the reduction between two groups. There was no significant difference in HJD improvement between the two groups 6 weeks following closed reduction. The AI (27.5±5.1°) of group B was significantly lower than those of group A (31±4.9°) (P=0.03) when cast was removed 3 months after CR. At the last follow-up, the incidence of AVN was similar between the two groups of patients (group A: 11.8% versus group B: 13.3%), and the incidence of subluxation or dislocation (group A: 8.8% versus group B: 10%). At last follow-up visit, the AI (23.7±5.4°) in group B was significantly lower than in group A (26.9±4.1°) (P=0.02).</p><p><strong>Conclusions: </strong>Dynamic cast immobilization promotes acetabular development following CR in patients aged 6 to 24 months with DDH. Dynamic cast immobilization does not increase the risk of dislocation or subluxation, nor of AVN.</p>","PeriodicalId":56337,"journal":{"name":"Minerva Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39535700","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
The use of intraoral ultrasound in the evaluation of the benign lesions in pediatric patients. 使用口腔内超声波评估儿童患者的良性病变。
IF 1 Q3 PEDIATRICS Pub Date : 2024-10-01 Epub Date: 2023-09-06 DOI: 10.23736/S2724-5276.23.07163-X
Gürkan Ünsal, Ayşe I Orhan, Kaan Orhan, Ahmet F Ertürk, İlknur Özcan, Maria M Marrapodi, Marco Cicciù, Giuseppe Minervini

Ultrasonography (US) or diagnostic sonography is a radiographic technique that uses sound waves with frequencies higher than 20 kHz to demonstrate soft tissues such as muscles, internal organs, joints, and tendons. The US has various applications in dentistry such as cervical lymph node examination, salivary gland examination, periodontal examination, maxillofacial fracture examination, temporomandibular joint examination, and orofacial swelling examination. One of the most important advantages of the US is it does not produce any ionizing radiation. Since the US does not produce any ionizing radiation, it is a favorable technique especially for the patients who are susceptible to ionizing radiation such as pregnant patients and pediatric patients. In this article, we presented benign tumor lesions that were examined with the US in children and conducted a review of the literature.

超声波造影术(US)或诊断性超声波造影术是一种利用频率高于 20 千赫的声波来显示肌肉、内脏、关节和肌腱等软组织的放射技术。超声波检查在牙科中有多种应用,如颈部淋巴结检查、唾液腺检查、牙周检查、颌面部骨折检查、颞下颌关节检查和口面部肿胀检查。US 最重要的优点之一是不产生任何电离辐射。由于 US 不会产生任何电离辐射,因此对于孕妇和儿童等易受电离辐射影响的患者来说,尤其是一种有利的技术。在本文中,我们介绍了用 US 检查儿童良性肿瘤病灶的方法,并对文献进行了综述。
{"title":"The use of intraoral ultrasound in the evaluation of the benign lesions in pediatric patients.","authors":"Gürkan Ünsal, Ayşe I Orhan, Kaan Orhan, Ahmet F Ertürk, İlknur Özcan, Maria M Marrapodi, Marco Cicciù, Giuseppe Minervini","doi":"10.23736/S2724-5276.23.07163-X","DOIUrl":"10.23736/S2724-5276.23.07163-X","url":null,"abstract":"<p><p>Ultrasonography (US) or diagnostic sonography is a radiographic technique that uses sound waves with frequencies higher than 20 kHz to demonstrate soft tissues such as muscles, internal organs, joints, and tendons. The US has various applications in dentistry such as cervical lymph node examination, salivary gland examination, periodontal examination, maxillofacial fracture examination, temporomandibular joint examination, and orofacial swelling examination. One of the most important advantages of the US is it does not produce any ionizing radiation. Since the US does not produce any ionizing radiation, it is a favorable technique especially for the patients who are susceptible to ionizing radiation such as pregnant patients and pediatric patients. In this article, we presented benign tumor lesions that were examined with the US in children and conducted a review of the literature.</p>","PeriodicalId":56337,"journal":{"name":"Minerva Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"10163359","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Importance of dietary fiber in children. 儿童膳食纤维的重要性。
IF 1 Q3 PEDIATRICS Pub Date : 2024-10-01 Epub Date: 2023-06-13 DOI: 10.23736/S2724-5276.23.07211-7
Sara Sila, Tena Niseteo, Iva Hojsak

Dietary fibers (DFs) are essential components of human nutrition and are principally defined as non-digestible carbohydrates (oligosaccharides and polysaccharides) usually classified by their physicochemical and physiological characteristics (water solubility, viscosity, fermentability, and bulking effect). Unfortunately, there is limited information on dietary fiber recommendations for children, and the evidence on their effect on health and symptom control is mainly available for the adult population. Therefore, this review aims to give a comprehensive overview of the characteristics and dietary sources of dietary fiber and their potential health benefits in healthy children but also their potential use in the treatment of sick children.

膳食纤维(DFs)是人类营养的重要组成部分,主要是指不可消化的碳水化合物(低聚糖和多糖),通常根据其物理化学和生理特性(水溶性、粘度、发酵性和膨化效应)进行分类。遗憾的是,有关儿童膳食纤维建议的信息非常有限,而有关膳食纤维对健康和症状控制影响的证据主要是针对成年人的。因此,本综述旨在全面概述膳食纤维的特点、膳食来源、对健康儿童的潜在健康益处以及在治疗患病儿童方面的潜在用途。
{"title":"Importance of dietary fiber in children.","authors":"Sara Sila, Tena Niseteo, Iva Hojsak","doi":"10.23736/S2724-5276.23.07211-7","DOIUrl":"10.23736/S2724-5276.23.07211-7","url":null,"abstract":"<p><p>Dietary fibers (DFs) are essential components of human nutrition and are principally defined as non-digestible carbohydrates (oligosaccharides and polysaccharides) usually classified by their physicochemical and physiological characteristics (water solubility, viscosity, fermentability, and bulking effect). Unfortunately, there is limited information on dietary fiber recommendations for children, and the evidence on their effect on health and symptom control is mainly available for the adult population. Therefore, this review aims to give a comprehensive overview of the characteristics and dietary sources of dietary fiber and their potential health benefits in healthy children but also their potential use in the treatment of sick children.</p>","PeriodicalId":56337,"journal":{"name":"Minerva Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"9977462","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Serum hepcidin and ferritin as markers of iron deficiency in premature infants born at less than 32 weeks of gestation: prospective observational study. 血清血红蛋白和铁蛋白作为妊娠不足 32 周早产儿缺铁的标志物:前瞻性观察研究。
IF 1 Q3 PEDIATRICS Pub Date : 2024-10-01 Epub Date: 2021-04-23 DOI: 10.23736/S2724-5276.21.06264-9
Sara Boštjančič, Ana Spirovska, Aleš Jerin, Vanja Erčulj, Simona Avčin, Lilijana Kornhauser Cerar, Štefan Grosek

Background: Preterm infants born at less than 32 weeks of gestation are at higher risk of low total iron stores (iron deficiency). Serum ferritin is used as a valid total iron stores and iron deficiency biomarker, usually as a combination of ferritin and red blood cell counts.

Methods: Serum hepcidin and ferritin values and red blood cell counts were obtained from 37 of 40 included premature infants born at less than 32 weeks of gestation at risk of iron deficiency. The first sample was obtained in the first week of life, and the second at transfer from the Neonatal intensive care unit to the maternity ward, when serum ferritin level below 25 µg/L has been defined as very low total iron stores (iron deficiency).

Results: Ferritin median levels decreased from a median value of 152 µg/L at the first measurement to 54 µg/L at the second measurement. Hepcidin median levels also decreased from 30.1 µg/L to 2.1 µg/L. We found a positive and statistically significant correlation between levels of ferritin and hepcidin at both measurements (r=0.57; P<0.001 and r=0.72; P<0.001, respectively). Compared to serum hepcidin, ferritin at the first measurement has not statistically significant higher power in predicting children with iron deficiency before discharge from the hospital.

Conclusions: We found a correlation between ferritin and hepcidin levels. Nevertheless, hepcidin does not have a worse power in predicting children with iron deficiency compared to ferritin.

背景:妊娠不足 32 周的早产儿总铁储量低(缺铁)的风险较高。血清铁蛋白被用作有效的总铁储存和缺铁生物标志物,通常是铁蛋白和红细胞计数的组合:从 40 名妊娠不足 32 周、有缺铁风险的早产儿中抽取了 37 人的血清血红素和铁蛋白值以及红细胞计数。第一个样本在婴儿出生后第一周采集,第二个样本在从新生儿重症监护室转入产科病房时采集,此时血清铁蛋白水平低于 25 μg/L 已被定义为总铁储量极低(缺铁):铁蛋白中位数水平从第一次测量时的 152 μg/L 降至第二次测量时的 54 μg/L。肝素中位数也从 30.1 μg/L 降至 2.1 μg/L。我们发现,在两次测量中,铁蛋白和肝磷脂水平之间存在统计学意义上的显著正相关(分别为 r = 0.57;p < 0.001 和 r = 0.72;p < 0.001)。与血清降血钙素相比,首次测量的铁蛋白在预测儿童出院前是否缺铁方面并没有显著的统计学意义:结论:我们发现铁蛋白与血红蛋白水平之间存在相关性。结论:我们发现铁蛋白和降血脂素水平之间存在相关性,但降血脂素预测儿童铁缺乏症的能力并不比铁蛋白差。
{"title":"Serum hepcidin and ferritin as markers of iron deficiency in premature infants born at less than 32 weeks of gestation: prospective observational study.","authors":"Sara Boštjančič, Ana Spirovska, Aleš Jerin, Vanja Erčulj, Simona Avčin, Lilijana Kornhauser Cerar, Štefan Grosek","doi":"10.23736/S2724-5276.21.06264-9","DOIUrl":"10.23736/S2724-5276.21.06264-9","url":null,"abstract":"<p><strong>Background: </strong>Preterm infants born at less than 32 weeks of gestation are at higher risk of low total iron stores (iron deficiency). Serum ferritin is used as a valid total iron stores and iron deficiency biomarker, usually as a combination of ferritin and red blood cell counts.</p><p><strong>Methods: </strong>Serum hepcidin and ferritin values and red blood cell counts were obtained from 37 of 40 included premature infants born at less than 32 weeks of gestation at risk of iron deficiency. The first sample was obtained in the first week of life, and the second at transfer from the Neonatal intensive care unit to the maternity ward, when serum ferritin level below 25 µg/L has been defined as very low total iron stores (iron deficiency).</p><p><strong>Results: </strong>Ferritin median levels decreased from a median value of 152 µg/L at the first measurement to 54 µg/L at the second measurement. Hepcidin median levels also decreased from 30.1 µg/L to 2.1 µg/L. We found a positive and statistically significant correlation between levels of ferritin and hepcidin at both measurements (r=0.57; P<0.001 and r=0.72; P<0.001, respectively). Compared to serum hepcidin, ferritin at the first measurement has not statistically significant higher power in predicting children with iron deficiency before discharge from the hospital.</p><p><strong>Conclusions: </strong>We found a correlation between ferritin and hepcidin levels. Nevertheless, hepcidin does not have a worse power in predicting children with iron deficiency compared to ferritin.</p>","PeriodicalId":56337,"journal":{"name":"Minerva Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"38901910","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Retrospective analysis of isobutyryl CoA dehydrogenase deficiency. 异丁酰基 CoA 脱氢酶缺乏症的回顾性分析。
IF 1 Q3 PEDIATRICS Pub Date : 2024-10-01 Epub Date: 2021-10-14 DOI: 10.23736/S2724-5276.21.06179-6
Zhilei Zhang, Yun Sun, Yan-Yun Wang, Ding-Yuan Ma, Xin Wang, Wei Cheng, Tao Jiang

Background: Isobutyryl-CoA dehydrogenase deficiency is a rare, autosomal recessive hereditary disease caused by a disorder in valine metabolism due to the deficiency of isobutyryl-CoA dehydrogenase. We provided two new mutations for ACAD8 and analyzed new sight to explore the association between the clinical phenotype and genotype of this disease.

Methods: The concentration of butyrylcarnitine was tested by tandem mass spectrometry. Butyryl carnitine and isobutyryl glycine levels were determined based on urine organic acid analysis. Gene mutations were analyzed through gene sequencing.

Results: Five individuals were diagnosed with isobutyryl-CoA dehydrogenase deficiency via newborn screening, and new mutations of ACAD8 encoding isobutyryl-CoA dehydrogenase were found. The mutations were c.1166G>A in exon 10 and c.986C>T in exon 9, which were analyzed as pathogenic sites. Both manifested as an increase in butyrylcarnitine and slightly elevated isobutyryl glycine levels. No abnormalities in growth and development were observed during follow-up. Additionally, we summarized 32 types of ACAD8 mutations reported worldwide, analyzed the distribution of mutations with clinical symptoms, and found them to be mainly concentrated in the N-terminal domain and C-terminal domain. These findings may provide new clues for the clinical diagnosis and management of isobutyryl-CoA dehydrogenase deficiency.

Conclusions: In this study, we reported new mutations of ACAD8 and performed a retrospective analysis of isobutyryl CoA dehydrogenase deficiency worldwide. Isobutyryl CoA dehydrogenase deficiency may pose a disease risk during the growth process, thereby requiring long-term follow-up.

背景:异丁酰基-CoA脱氢酶缺乏症是一种罕见的常染色体隐性遗传病,由异丁酰基-CoA脱氢酶缺乏导致的缬氨酸代谢紊乱引起。我们提供了两个新的ACAD8突变基因,并分析了新的视线,以探索该病临床表型与基因型之间的关联:方法:采用串联质谱法检测丁酰肉碱的浓度。通过基因测序分析基因突变:结果:通过新生儿筛查,五人被确诊为异丁酰-CoA脱氢酶缺乏症,并发现了编码异丁酰-CoA脱氢酶的ACAD8的新突变。经分析,这两个突变分别为第 10 号外显子中的 c.1166G>A 和第 9 号外显子中的 c.986C>T,均为致病位点。这两种突变均表现为丁酰肉碱水平升高和异丁酰甘氨酸水平轻微升高。随访期间未发现生长发育异常。此外,我们还总结了全球报道的32种ACAD8突变类型,分析了突变与临床症状的分布,发现它们主要集中在N端结构域和C端结构域。这些发现可能会为异丁酰-CoA脱氢酶缺乏症的临床诊断和治疗提供新的线索:在这项研究中,我们报告了 ACAD8 的新突变,并对全球异丁酰基 CoA 脱氢酶缺乏症进行了回顾性分析。异丁酰基 CoA 脱氢酶缺乏症可能会在生长过程中带来疾病风险,因此需要长期随访。
{"title":"Retrospective analysis of isobutyryl CoA dehydrogenase deficiency.","authors":"Zhilei Zhang, Yun Sun, Yan-Yun Wang, Ding-Yuan Ma, Xin Wang, Wei Cheng, Tao Jiang","doi":"10.23736/S2724-5276.21.06179-6","DOIUrl":"10.23736/S2724-5276.21.06179-6","url":null,"abstract":"<p><strong>Background: </strong>Isobutyryl-CoA dehydrogenase deficiency is a rare, autosomal recessive hereditary disease caused by a disorder in valine metabolism due to the deficiency of isobutyryl-CoA dehydrogenase. We provided two new mutations for ACAD8 and analyzed new sight to explore the association between the clinical phenotype and genotype of this disease.</p><p><strong>Methods: </strong>The concentration of butyrylcarnitine was tested by tandem mass spectrometry. Butyryl carnitine and isobutyryl glycine levels were determined based on urine organic acid analysis. Gene mutations were analyzed through gene sequencing.</p><p><strong>Results: </strong>Five individuals were diagnosed with isobutyryl-CoA dehydrogenase deficiency via newborn screening, and new mutations of ACAD8 encoding isobutyryl-CoA dehydrogenase were found. The mutations were c.1166G>A in exon 10 and c.986C>T in exon 9, which were analyzed as pathogenic sites. Both manifested as an increase in butyrylcarnitine and slightly elevated isobutyryl glycine levels. No abnormalities in growth and development were observed during follow-up. Additionally, we summarized 32 types of ACAD8 mutations reported worldwide, analyzed the distribution of mutations with clinical symptoms, and found them to be mainly concentrated in the N-terminal domain and C-terminal domain. These findings may provide new clues for the clinical diagnosis and management of isobutyryl-CoA dehydrogenase deficiency.</p><p><strong>Conclusions: </strong>In this study, we reported new mutations of ACAD8 and performed a retrospective analysis of isobutyryl CoA dehydrogenase deficiency worldwide. Isobutyryl CoA dehydrogenase deficiency may pose a disease risk during the growth process, thereby requiring long-term follow-up.</p>","PeriodicalId":56337,"journal":{"name":"Minerva Pediatrics","volume":null,"pages":null},"PeriodicalIF":1.0,"publicationDate":"2024-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"39516719","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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Minerva Pediatrics
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