Journal of pediatric biochemistry最新文献

{"title":"Pediatric Tumors","authors":"G. Magro, A. Di Cataldo, G. Russo","doi":"10.1055/s-0036-1572320","DOIUrl":"https://doi.org/10.1055/s-0036-1572320","url":null,"abstract":"Diagnosis and therapy of pediatric tumors have a very long and productive history, and we feel indebted toward those pioneers who first opened the way to the understanding of the pathways that underlie the basic mechanisms of these special tumor types. The diagnosis of pediatric malignant tumors is often challenging.1–3 Accordingly, over the last two decades, there has been an increasing interest worldwide about the identification of tumor markers useful for both diagnostic and therapeutic purposes in pediatric oncology.4–14 Apart from neuroblastoma, hepatoblastoma, and germ cell tumors, the majority of solid pediatric tumors have no tumor-specific markers detectable in the serum of patients. In the present special issue, our aim is to provide original and review articles dealing with some pediatric tumors, emphasizing clinical, biochemical, and pathological features, which can be exploited by pediatricians, regardless of their subspecialties, in their daily practice. The need for a multidisciplinary approach, particularly with the joint effort of clinical and laboratory counterparts, is evident throughout the articles presented herein. This special issue begins with an overview on adrenocortical tumors in childhood. These neoplasms are relatively rare in pediatric age and their diagnosis (benign vs. malignant) is still challenging.15 In this regard, the article by Salvatorelli et al discusses the clinical, laboratory, and pathologic features useful in daily practice for achieving an accurate diagnosis. The article by Tumino et al summarizes the current understanding on bonemarrow transplantation for both malignant and nonmalignant hemopathies. They report some new interesting acquisitions about the allogeneic transplant with a haploidentical, semi-compatible, donor.16 The article by Ruggeri et al focuses on the pathophysiology of merlin structure and function, on its posttranslational and upstream/downstream regulation in the different forms of NF2 in the pediatric age.17 Neuroblastoma is one of the most frequent solid tumors in children. About half of the cases are metastatic, and its prognosis today still remains unfavorable despitemany new therapeutical approaches. The articles by Marino et al and Balaguer et al deal with typical biomarkers of neuroblastoma: the former focuses mainly on vanillylmandelic and homovanillic acids,18whereas the latter on metaiodobenzylguanidine (MIBG), a molecule that can be marked with radioactive 123or 131-iodine; due to the ability of neuroblastoma to uptake MIBG, this marker turns out to be extremely useful for diagnosis, follow-up, and treatment.19 Acute lymphoblastic leukemia is the most frequent childhood neoplasm, and its prognosis in the last two decades has become very good for most patients. Bonaccorso and colleagues discuss about the pathways involved in the leukemogenic process, and the prospective of a tailored treatment according to single specific profile, to further increase the efficacy with less","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"05 1","pages":"107 - 108"},"PeriodicalIF":0.0,"publicationDate":"2015-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1572320","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58126824","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}

{"title":"Pediatric Adrenocortical Tumors: Clinicopathological Features—An Update","authors":"L. Salvatorelli, G. Angelico, F. Motta, A. Di Cataldo, P. Milone, M. Ruggieri, G. Magro","doi":"10.1055/s-0036-1572321","DOIUrl":"https://doi.org/10.1055/s-0036-1572321","url":null,"abstract":"Abstract Pediatric adrenocortical tumors (ACTs) are rare in children. Most tumors are hormonally active with overproduction of androgens and glucocorticoids, and less frequently mineralocorticoids and estrogens. Patients usually present with clinical signs of virilization or Cushing syndrome, while only a minority of ACTs are incidentally discovered. Unfortunately, the clinical behavior of pediatric ACTs is often unpredictable, and the distinction between benign and malignant tumors is still challenging. The present review deals with the main clinical and laboratory features which can help to diagnose pediatric ACTs, with special emphasis on the pathological criteria useful to stratify patients into three different prognostic categories: (1) patients with benign tumors; (2) patients with malignant tumors; and (3) patients with borderline tumors (tumors with indeterminate malignancy). In this regard, general guidelines and histological illustrations are provided to offer a practical approach for a correct identification of morphological predictors of clinical outcome.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"05 1","pages":"109 - 114"},"PeriodicalIF":0.0,"publicationDate":"2015-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1572321","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58126837","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}

{"title":"Tumor Lysis Syndrome: An Emergency in Pediatric Oncology","authors":"M. La Spina, F. Puglisi, F. Sullo, V. Venti, C. Cimino, F. Bellia, L. Lo Nigro, S. Marino, A. Di Cataldo, G. Russo","doi":"10.1055/s-0036-1572423","DOIUrl":"https://doi.org/10.1055/s-0036-1572423","url":null,"abstract":"Abstract The tumor lysis syndrome (TLS) is an oncology emergency triggered by a massive and abrupt release of intracellular substances (potassium, phosphate, and purine metabolites) into the bloodstream. It may occur spontaneously or, more frequently, as a consequence of chemotherapy or radiation therapy. When the accumulation of these metabolites overwhelms the normal homeostatic mechanism, the TLS develops and leads to hyperkalemia, hyperphosphatemia, hyperuricemia, and hypocalcaemia. These metabolic derangements can progress to clinical manifestations including acute renal failure, cardiac arrhythmias, central nervous system toxicity, and even death. The key to prevent and manage TLS is the identification of high-risk patients to give them appropriate treatment measures when necessary.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"05 1","pages":"161 - 168"},"PeriodicalIF":0.0,"publicationDate":"2015-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1572423","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58127206","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}

{"title":"Biochemical Insights into Merlin/NF2 Pathophysiology and Biologically Targeted Therapies in Childhood NF2 and Related Forms","authors":"M. Ruggieri, A. Praticò, M. Muglia, L. Maiolino, G. Magro, Dafydd Evans","doi":"10.1055/s-0036-1572361","DOIUrl":"https://doi.org/10.1055/s-0036-1572361","url":null,"abstract":"Abstract Neurofibromatosis type 2 (NF2; MIM # 101000) is an autosomal dominant disorder characterized by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal, and cutaneous nerves, cranial and spinal meningiomas, and/or other central nervous system (CNS) tumors (e.g., ependymomas, astrocytomas). Additional features include early-onset cataracts, optic nerve sheath meningiomas and retinal hamartomas, dermal schwannomas (i.e., NF2-plaques), and few café au lait spots. Clinically, NF2 children fall into two main groups: (1) congenital NF2, with bilateral VSs detected as early as the first days to months of life, which can be stable/asymptomatic for one to two decades and suddenly progress; and (2) severe prepubertal (Wishart type) NF2, with multiple (and rapidly progressive) CNS tumors other than VS, which usually present first, years before VSs (vs. the classic adult [Gardner type] NF2, with bilateral VSs presenting in young adulthood, sometimes as the only disease feature). Some individuals can develop unilateral VS associated with ipsilateral meningiomas or multiple schwannomas localized to one part of the peripheral nervous system (i.e., mosaic/segmental NF2) or multiple non-VS, non-intradermal cranial, spinal, and peripheral schwannomas (histologically proven) (schwannomatosis). NF2 is caused by mutations in the NF2 gene at chromosome 22q12.1, which encodes for a protein called merlin or schwannomin, most similar to the ezrin-radixin-moesin (ERM) proteins; mosaic NF2 is due to mosaic phenomena for the NF2 gene, whereas schwannomatosis is caused by coupled germ-line and mosaic mutations either in the SMARCB1 gene (SWNTS1; MIM # 162091) or the LZTR1 gene (SWNTS2; MIM # 615670), both falling within the 22q region and the NF2 gene. Data driven from in vitro and animal studies on the merlin pathway allowed biologically targeted treatment strategies (e.g., lapatinib, erlotinib, bevacizumab) aimed to multiple tumor shrinkage and/or regression and tumor arrest of progression with functional improvement. In the present review we focus on the pathophysiology of merlin structure and function and on its posttranslational and upstream/downstream regulation in the different forms of NF2 in the pediatric age.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"05 1","pages":"120 - 130"},"PeriodicalIF":0.0,"publicationDate":"2015-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1572361","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58126978","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}

{"title":"The Role of Alfa Fetoprotein in the Risk Management of Pediatric Germ Cell Tumors","authors":"C. Moscheo, A. Di Cataldo, F. Spreafico, S. Chiaravalli, S. Catania, M. Terenziani","doi":"10.1055/s-0036-1572422","DOIUrl":"https://doi.org/10.1055/s-0036-1572422","url":null,"abstract":"Abstract Germ cell tumors (GCTs) are a rare group of neoplasms that arise from pluripotent stem cells. They display variable behavior depending on age, histology, primary tumor site, and stage of disease. In pediatric GCTs serum alfa fetoprotein (AFP) is the most frequently used marker for diagnosis and monitoring, although it is not specific only for these diseases. In this review, we discuss extracranial GCTs and the usefulness of AFP in their management.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"05 1","pages":"157 - 160"},"PeriodicalIF":0.0,"publicationDate":"2015-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1572422","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58127141","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}

{"title":"Persistent Elevation of Parathyroid Hormone during Pediatric Parathyroidectomy","authors":"Katherine W Gonzalez, A. Ferguson, A. Wiebold, C. Iqbal, U. Garg","doi":"10.1055/s-0036-1571833","DOIUrl":"https://doi.org/10.1055/s-0036-1571833","url":null,"abstract":"Abstract Primary hyperparathyroidism due to adenoma or hyperplasia is often the cause of inappropriately elevated parathyroid hormone in patients with hypercalcemia. Intraoperative monitoring of parathyroid hormone serum concentrations is widely accepted in the adult population, ensuring adequate resection during primary operative exploration. Here, we describe a pediatric case report during which intraoperative hormone monitoring was crucial in directing the operative approach. This symptomatic patient had standard preoperative studies. However, despite an adequate resection of the identified hyperactive tissue, her intraoperative parathyroid hormone concentrations remained inappropriately elevated prompting further dissection of neighboring tissue. A parathyroid adenoma was successfully excised during the operation, preventing further invasive procedures. This report highlights the feasibility of monitoring intraoperatively parathyroid hormone levels in the pediatric population.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"05 1","pages":"103 - 106"},"PeriodicalIF":0.0,"publicationDate":"2015-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1571833","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58126375","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}

{"title":"Bronchodilator and Antihyperkalemic Effects of Salbutamol (Albuterol) in Neonates and Young Infants","authors":"G. Pacifici, K. Allegaert","doi":"10.1055/s-0036-1571852","DOIUrl":"https://doi.org/10.1055/s-0036-1571852","url":null,"abstract":"Abstract Salbutamol (albuterol) is a β2-agonist used for its bronchodilator activity and for its antihyperkalemic property. Salbutamol was specifically designed for use in infants and children. The preferred route of administration is by a nebulizer because systemic effects are lower than after oral or intravenous administration. Salbutamol is the most widely used bronchodilator in adults and children. When inhaled from metered-dose aerosol, it is easy to use, has a rapid onset of action, and does not have significant adverse effects. Compared with preadministration values, salbutamol yields a significant decrease in resistance and an increase in compliance. Salbutamol can alleviate bronchospasm in infants and children with chronic lung disease such as asthma. The bronchodilator effects of salbutamol are attributed to the R-enantiomer of salbutamol (levosalbutamol). The decrease in airway resistance reflects the relationship between the bronchial smooth muscle and the diameter of the airways. Infants who required intubation and mechanical ventilator support for respiratory syncytial virus-induced respiratory failure had an improvement of lung function following the administration of salbutamol. Nebulized salbutamol has not been reported to have cardiac side effects. Epinephrine was not found to be more efficacious than salbutamol in treating moderately ill infants with bronchiolitis. Hyperkalemia is a fatal disorder that requires treatment. The aim of this review is to summarize the published data on the activities of salbutamol as a bronchodilator and as an antihyperkalemia agent in neonates.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"05 1","pages":"082 - 087"},"PeriodicalIF":0.0,"publicationDate":"2015-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1571852","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58126525","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}

{"title":"Does Perinatal Infection Affect the Capacity of Umbilical Vein Endothelial Cells to Produce Adenosine Triphosphate?","authors":"B. Paepe","doi":"10.1055/s-0036-1571829","DOIUrl":"https://doi.org/10.1055/s-0036-1571829","url":null,"abstract":"Efficient energy production forms the very core of human health, and the key of this process lies within the cell’s mitochondria. By way of oxidative phosphorylation, cells produce the high amount of adenosine triphosphate (ATP) that they need to sustain themselves, and to grow and divide. Disruption of this energy production system is implicated in diverse human diseases, which range from primary mitochondrial disease1 to cancer.2 Perinatal infection, caused by bacteria or viruses that are passed on from themother to her offspring during pregnancy or delivery, is a commonly observed complication in neonatology. The mechanisms underlying this complication, however, remain partly unknown. As human umbilical vein endothelial cells (HUVEC) play an important role as regulators of fetal blood flow, dysfunction of HUVEC metabolism may result in compromised fetal development. In view of the established complex interactions between mitochondrial function and the immune system,3 it is assumed that mitochondrial activity of HUVEC could be relevant to perinatal infection outcome, but the precise mechanism has not been elucidated as yet. The tight relationship between energy metabolism and the immune system is further illustrated by the fact that a significant fraction of patients with primary mitochondrial disorders experience serious or recurrent (mostly bacterial) infections.4 In this issue of the Journal of Pediatric Biochemistry, Thomas Neisse and coworkers present their data in a model that describes lipopolysaccharide (LPS)-induced changes observed in HUVEC cells from mature and premature neonates. They report no differences between naïve and LPS-incubated cells. Cytochrome c oxidase-activity, however, was found to differ whether HUVEC were derived from term or premature newborns, indicating a form of timed regulation in these cells. The current work represents a necessary step to increase our understanding of the mechanisms that arise from early life inflammatory events. Further study is needed to develop this growing knowhow into strategies to combat infectionassociated complications.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"05 1","pages":"081 - 081"},"PeriodicalIF":0.0,"publicationDate":"2015-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1571829","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58126327","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}

{"title":"Lipopolysaccharides and Prematurity: Effect on the Activity of Respiratory Chain Enzymes in Human Umbilical Venous Endothelial Cells","authors":"T. Neisse, N. Janzen, A. Das","doi":"10.1055/s-0036-1571830","DOIUrl":"https://doi.org/10.1055/s-0036-1571830","url":null,"abstract":"Abstract Fetal infection is associated with considerable perinatal morbidity. Dysfunction of human umbilical venous endothelial cells (HUVEC) may compromise fetal blood supply from the placenta. HUVECs were incubated with one of the key inflammatory mediators, lipopolysaccharides (LPS), and activities of respiratory chain enzymes were measured. Based on gestational age, HUVEC were divided into a mature and two premature groups from otherwise uncomplicated pregnancies (four patients each) and incubated for 1, 6, or 12 hours with LPS (100 ng/mL), respectively, incubation without LPS served as a control. We analyzed the activities of respiratory chain enzymes and citrate synthase as a mitochondrial marker spectrophotometrically. No significant differences in respiratory chain activities between the LPS-incubated cells and internal controls could be observed. However, we were able to demonstrate significant differences depending on gestational age: respiratory chain complex IV (p < 0.01) showed higher activity and complex I + III (p = 0.01) lower activity at lower gestational age. No such differences were observed for complex II + III, complex V, and citrate synthase. No effect on the activities of mitochondrial respiratory chain enzymes induced by LPS could be shown. Activity of complex I + III was decreased and activity of complex IV was increased at lower gestational age in control and LPS-incubated cells.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"05 1","pages":"088 - 093"},"PeriodicalIF":0.0,"publicationDate":"2015-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1571830","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58126340","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}

{"title":"Determination of Relationship between Infection and Serum Levels of Prohepcidin in Pediatric Patients before and after Bone Marrow Transplantation","authors":"B. Göker, M. Akbıyık, Onur Gönül, Çağrı Güleç, S. Anak","doi":"10.1055/s-0036-1571831","DOIUrl":"https://doi.org/10.1055/s-0036-1571831","url":null,"abstract":"Abstract Since the immune system is suppressed before bone marrow transplantation (BMT), severe infections might arise. This clinical article considers the role of prohepcidin, in addition to interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α) in infections occurring after BMT. Serum prohepcidin, IL-6, TNF-α, and C-reactive protein (CRP) levels were measured in 10 pediatric BMT patients by enzyme-linked immunosorbent assay before and after BMT. The results were evaluated statistically. As a result of the analysis, it was observed that there was a significant correlation between serum prohepcidin and IL-6, TNF-α, and CRP levels in the pretransplantation, posttransplantation, and discharge periods of the patients. The relationship between CRP levels and prohepcidin levels suggests that the serum prohepcidin level might be an important parameter for transplantation patients in consideration of infection. Verification of these results from future studies may confirm the clinical importance of hepcidin.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"05 1","pages":"094 - 097"},"PeriodicalIF":0.0,"publicationDate":"2015-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1571831","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58126350","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}