Pub Date : 2024-10-01Epub Date: 2023-06-16DOI: 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.
{"title":"Efficacy of videogames and exergames in pediatric neurorehabilitation: a systematic review.","authors":"Agata Polizzi, Sergio Rinella, Martino Ruggieri, Amalia E Gentile, Cristiano M Verrelli, Marco Iosa","doi":"10.23736/S2724-5276.23.07146-X","DOIUrl":"10.23736/S2724-5276.23.07146-X","url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Evidence acquisition: </strong>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.</p><p><strong>Evidence synthesis: </strong>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.</p><p><strong>Conclusions: </strong>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.</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":"10019478","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}
Pub Date : 2024-10-01Epub Date: 2024-05-16DOI: 10.23736/S2724-5276.24.07578-5
Gun H Kee, Ran Huo
{"title":"Epithelioid angiosarcoma occurring in the lower jaw of infants.","authors":"Gun H Kee, Ran Huo","doi":"10.23736/S2724-5276.24.07578-5","DOIUrl":"10.23736/S2724-5276.24.07578-5","url":null,"abstract":"","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":"140961281","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}
Pub Date : 2024-10-01Epub Date: 2024-06-04DOI: 10.23736/S2724-5276.24.07600-6
Gianvincenzo Zuccotti, Valeria Calcaterra
{"title":"Perspectives on managing non-communicable diseases in pediatric health using artificial intelligence.","authors":"Gianvincenzo Zuccotti, Valeria Calcaterra","doi":"10.23736/S2724-5276.24.07600-6","DOIUrl":"10.23736/S2724-5276.24.07600-6","url":null,"abstract":"","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":"141249269","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}
Pub Date : 2024-10-01Epub Date: 2023-06-07DOI: 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.
{"title":"Effect of targeted responsibility system nursing combined with psychological intervention on compliance and complications of patients with autologous nasal septum and ear cartilage transplantation.","authors":"Wei Lin, Falan Hong","doi":"10.23736/S2724-5276.23.07105-7","DOIUrl":"10.23736/S2724-5276.23.07105-7","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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 (χ<sup>2</sup>=4.021, P<0.05) and a lower complication rate (7.50% vs. 27.50%) than the control group (χ<sup>2</sup>=4.242, P<0.05).</p><p><strong>Conclusions: </strong>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.</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":"9578414","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}
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.
{"title":"Extended-hearing targeted screening for congenital cytomegalovirus infection.","authors":"Francesca Forli, Francesco Lazzerini, Rachele Canelli, Francesca Lorenzoni, Beatrice Franciosi, Stefano Berrettini, Luca Bruschini","doi":"10.23736/S2724-5276.21.06287-X","DOIUrl":"10.23736/S2724-5276.21.06287-X","url":null,"abstract":"<p><strong>Background: </strong>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.</p><p><strong>Methods: </strong>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).</p><p><strong>Results: </strong>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.</p><p><strong>Conclusions: </strong>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.</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":"38955194","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}
Pub Date : 2024-10-01Epub Date: 2021-10-21DOI: 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.
{"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}
Pub Date : 2024-10-01Epub Date: 2023-09-06DOI: 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}
Pub Date : 2024-10-01Epub Date: 2023-06-13DOI: 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.
{"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}
Pub Date : 2024-10-01Epub Date: 2021-04-23DOI: 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.
{"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}
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}