{"title":"Mitochondrial disease during infancy and childhood","authors":"R. Saneto","doi":"10.1055/s-0036-1586482","DOIUrl":"https://doi.org/10.1055/s-0036-1586482","url":null,"abstract":"Abstract Mitochondrial disease has only been genetically defined since the late 1980's, yet the pathophysiology of mitochondrial function and genetics has altered the way we think of disease. Mitochondria have their own DNA and are independent replicating organelles that are bound to the energetic needs of cells. Diseases due to alteration in mitochondrial DNA are inherited exclusively via maternal inheritance. But disease can also be inherited in a Mendelian fashion. The cross-talk between genomes can create a wide variety of diseases by altering mitochondrial function and hence, diminishing the availability of energy for cellular metabolism. As one would expect, the developing infant and/or child would have the greatest dependency on the need for energy to ensure proper development. Indeed, defects in mitochondrial function produce the most common inborn error of metabolism leading to disease. This review will highlight the pathophysiology behind mitochondrial dysfunction as well as describe the most common of the group of mitochondrial diseases found in this age range.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"04 1","pages":"201 - 215"},"PeriodicalIF":0.0,"publicationDate":"2014-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1586482","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58160121","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":"Neuroimaging in infants who present with inborn errors of metabolism","authors":"A. Gropman","doi":"10.1055/s-0036-1586480","DOIUrl":"https://doi.org/10.1055/s-0036-1586480","url":null,"abstract":"Abstract In the clinical management of inborn errors of metabolism (IEMs) a central focus is on protecting the central nervous system (CNS) from the toxic effects of the metabolic dysfunction. Despite our ability to screen for and detect many of these conditions in the newborn period, making early treatment possible, cognitive abnormalities may still result because of our inability to identify and alter the early steps in brain pathology. A key in preventing neurological imaging is the understanding the steps in the brain injury and the time course of injury in order that physicians may intervene. Since the infant who is comatose does not give us clues as to whether it is due to infection, inborn errors of metabolism and which one, seizures or other causes based on examination alone. Therefore, neuroimaging may provide biomarkers for diagnosis and prognosis. This review will discuss use of neuroimaging in inborn errors of metabolism of acutely ill infants.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"04 1","pages":"183 - 191"},"PeriodicalIF":0.0,"publicationDate":"2014-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58159942","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":"Systemic organic acidemias: Identification, diagnosis, management and long term complications","authors":"K. Chapman","doi":"10.1055/s-0036-1586481","DOIUrl":"https://doi.org/10.1055/s-0036-1586481","url":null,"abstract":"Abstract Systemic organic acidemias are intoxication-type inborn errors of metabolism which can present in the neonatal period and beyond with metabolic acidosis, vomiting, and lethargy, and progress to coma and without adequate treatment ultimately death. There should be a low threshold for consideration of this family of disorders in individuals that present with the above symptoms, present with a sepsis-like picture, have developmental delay or intellectual disability, or develop disease-specific long term complications (e.g., cardiomyopathy seen in propionic acidemia, renal failure seen in the methylmalonic acidemias). Late diagnosis with intellectual disabilities or disease-specific complications are thought to becoming less common in areas with universal newborn screening since it includes many of these disorders and allows for early treatment and avoidance of severe presentations. In general, treatment in the acute setting focuses on decreasing toxin production by reversal of catabolism, removal of toxin precursors, use of toxin scavengers (e.g., levocarnitine to bind propionic acid in propionic acidemia) and attempting to improve enzyme function by using supra-physiologic doses of cofactors. Long term therapy has similar approaches.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"04 1","pages":"193 - 200"},"PeriodicalIF":0.0,"publicationDate":"2014-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1586481","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58160108","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}
M. Aydın, B. Nalbantoğlu, M. Donma, F. Tulubas, V. Kuçukyalcin, E. Karasu, B. Topçu, A. Gurel
{"title":"The effect of obesity and dietary habits on mean platelet volume and other platelet indices","authors":"M. Aydın, B. Nalbantoğlu, M. Donma, F. Tulubas, V. Kuçukyalcin, E. Karasu, B. Topçu, A. Gurel","doi":"10.1055/s-0036-1586477","DOIUrl":"https://doi.org/10.1055/s-0036-1586477","url":null,"abstract":"Abstract In this study, the mean platelet volume (MPV) and platelet distribution width (PDW) parameters in obese children and the control group were compared with the amount of fast food consumed in the diet to determine whether there is a correlation. After the patients' medical records were examined, parameters such as height, body weight, waist circumference, and hip circumference measurements were recorded. Among the study patients, those whose complete blood counts were tested due to medical requirements or routine check-ups were included, and the patients' MPV and PDW were evaluated. The MPV and PDW concentrations of obese children were significantly higher than those of healthy controls. There was a positive correlation between fast food consumption, and MPV and PDW. In the presence of obesity and excessive consumption of fast food, increased MPV concentrations might trigger the pathogenesis of atherosclerosis starting from childhood years onward. Therefore, in this age group obesity should be controlled with diet and other treatment methods to prevent the mortality and morbidity that might ensue in adult years.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"04 1","pages":"167 - 170"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1586477","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58159872","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":"Measuring urine biomarkers in cotton balls placed in neonates' napkins","authors":"R. Vieux, A. Sindt, P. Franck","doi":"10.1055/s-0036-1586476","DOIUrl":"https://doi.org/10.1055/s-0036-1586476","url":null,"abstract":"Abstract Urine analysis in neonates requires invasive or skin-abrasive techniques for urine collection. We determined validity of the measurements of some urine biomarkers when urine was squeezed from cotton balls, and if urine samples could be collected in cotton balls in neonates. 1) Urine was collected in volunteer subjects, divided into aliquots of 5 mL fresh urine samples and 5 mL urine samples squeezed from cotton balls. Urine ionogram, albumin, beta-2-microglobulin, and proteins were measured in both samples. Imprecision was measured and compared to the relative variation of the biomarker results measured with both urine collection techniques. Bland and Altman graphs were performed. 2) Cotton balls were used to collect urine samples in neonates to test if this collection technique was feasible. Results: 60 subjects were included, 30 volunteer subjects and 30 neonates. Collecting urine in cotton balls did not significantly bias the results of sodium, potassium, chloride, glucose, urea, and creatinine. Proteins concentrations were higher in fresh urine, and calcium results were altered by the interference of calcium hypochlorite used to whiten purified cotton. Biomarkers could be measured in 90% neonates with cotton balls. Collecting urine in cotton balls allows measurements of sodium, potassium, chloride, glucose, urea, and creatinine in neonates without damaging their skin.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"04 1","pages":"159 - 166"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1586476","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58159816","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}
I. Kamel, R. Sabry, E. A. Abdel Hamid, H. Aly, H. Ahmed
{"title":"Inflammatory cytokines, vitamins C and E in children versus adolescences with atopic dermatitis","authors":"I. Kamel, R. Sabry, E. A. Abdel Hamid, H. Aly, H. Ahmed","doi":"10.1055/s-0036-1586474","DOIUrl":"https://doi.org/10.1055/s-0036-1586474","url":null,"abstract":"Abstract Atopic dermatitis (AD), a chronic inflammatory skin disease with no cure, currently affects almost one-fifth of the population of industrialized nations. Treatment can be challenging for physicians and patients, making it even more difficult to find safe therapeutic options, especially in severe disease. Interest in diet and nutrition has increased during the last few years. Nutritional interventions are both intriguing and accessible for many patients. AD has two phases, acute and chronic. No therapeutic attempts has yet been tried to target these phases rather than treatment according to severity grade. Studies point to interleukin (IL)-18 as key player in the pathogenesis of AD and the switch between its two phases. T helper (Th) cytokines (IL-4, IL-10, IL-12, IL-18), interferon-γ (IFN-γ), tumor necrosis factor-α (TNF-α), immunoglobulin E (Ig E), and vitamins E and C in children and adolescents with acute and chronic AD. Sixty AD patients were classified into two groups; children (acute) and adolescents (chronic) AD, with thirty in each. In addition, two corresponding healthy normal control groups of thirty each were evaluated. Serum IL-4, IL-10, IL-12, IL-18, IFN-γ and serum IgE were estimated by ELISA. IL-12, IL-18 and IFN-γ levels were 2–C-4 folds higher in chronic AD as compared to normal controls. IL-18 and TNF-α levels were significantly higher in chronic than acute AD patients. Vitamins C and E, on the other hand, were significant decreased in chronic versus acute AD patients. Conclusion: ILs, IFN-γ, TNF-α and serum IgE may play a role in AD. In addition, measurement of IL-18 may be a valuable tool for assessment of age related disease severity. Also, vitamins C and E appear to be reduced in acute and chronic AD patients.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"04 1","pages":"145 - 151"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1586474","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58159784","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}
V. Chirico, A. Lacquaniti, S. Manti, C. Cuppari, G. D'angelo, A. Lanzafame, M. Filippelli, C. Munafò, C. Salpietro, T. Arrigo
{"title":"New available biomarkers to face a worldwide emergency: The childhood obesity","authors":"V. Chirico, A. Lacquaniti, S. Manti, C. Cuppari, G. D'angelo, A. Lanzafame, M. Filippelli, C. Munafò, C. Salpietro, T. Arrigo","doi":"10.1055/s-0036-1586473","DOIUrl":"https://doi.org/10.1055/s-0036-1586473","url":null,"abstract":"Abstract Childhood obesity is characterized by a chronic low-grade inflammation process detected through a panel of inflammatory markers. Adipokines secreted from adipose tissue are key regulators of inflammation in obesity. Increased Tumor Necrosis Factor (TNF)-α and Interleukin (IL)-6 levels as well as decreased adiponectin and IL-10 levels are associated with inflammation, tissue injury and complications of obesity. The recent discovery of High Mobility Group Box 1 (HMGB1) protein as a critical mediator of inflammation stimulated an increasing interest in inflammation research field. Obese children are characterized by high levels of this protein, closely related with other inflammatory cytokines, such as IL-6, TNF-α, IL-18, resistin and adiponectin. Moreover, prolactin represents another risk marker for obese children and a predictive factor for progression to metabolic syndrome. Leptin and ghrelin are two hormones playing key roles on energy balance. Leptin is responsible from long term regulation of metabolism and ghrelin functions as an appetite stimulatory signal. In contrast to ghrelin, obestatin acts as an anorexigenic hormone by suppressing food intake. Moreover, we also reviewed other gut-derived hormones involved in the regulation of food intake and energy homeostasis, such as amylin, peptide YY and glucagon-like peptide 1. All these peptides could represent important tools to detect eating disorders in children. The aim of this review is to better define the role of new peptides in childhood obesity. The diagnostic and prognostic role of these biomarkers was also assessed, highlighting potential strategies and proteomic medicine that could become possible in the near future.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"04 1","pages":"139 - 143"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1586473","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58159734","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}
K. Nugent, J. Garner, Remo George, J. Waugh, M. Unlap
{"title":"The Na+/Ca2+ exchanger: A possible link between oxidative stress and endogenous ouabain in hypertension","authors":"K. Nugent, J. Garner, Remo George, J. Waugh, M. Unlap","doi":"10.1055/s-0036-1586472","DOIUrl":"https://doi.org/10.1055/s-0036-1586472","url":null,"abstract":"Abstract Oxidative stress-induced hypertension involves a number of membrane transport proteins that play a critical role in maintaining the cytosolic homeostasis of Na+ and Ca2+. These transport proteins include Na+/K+-ATPase, the Na+/H+ exchanger, Na channels, and the Na+/Ca2+ exchanger. The exact link between these membrane transporters is not exactly known but appears to involve their location in microdomains called PLasmERosomes, oxidative stress and circulating ouabain levels. Oxidative stress stimulates the generation of ouabain from the adrenal glands which elevates circulating endogenous ouabain levels. At concentrations above 1nM, ouabain inhibits the activity of the Na+/K+-ATPase. At 1nM or lower concentrations, the Na+/K+-ATPase acts as a transducer which induces a cascade of events that begins with phosphorylation of the epidermal growth factor receptor (EGFR) by Src and activation of Ras, Raf, mitogen activated protein kinase kinase (MEK), mitogen activated protein kinase (MAPK), extracellular signal-regulated kinase1/2 (ERK1/2), and p90 ribosomal S6 kinase (p90RSK). p90RSK activates the Na+/H+ exchanger through phosphorylation. Ouabain-mediated inhibition and activation of the Na+/K+-ATPase and Na+/H+ exchanger, respectively, leads to elevation of Na+ in the PLasmERosome which stimulates the Na+/Ca2+ exchanger to extrude Na+ in exchange for Ca2+. This elevates Ca2+ in the PLasmERosome which stimulates junctional ER to release Ca2+. Ca2+ influx through the Na+/Ca2+ exchanger and release from junctional ER leads to Ca2+ overload which can lead to a number of pathologies including increased vascular tone and hypertension.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"04 1","pages":"127 - 137"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0036-1586472","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58159717","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}
Yotam Almagor, S. Eventov-Friedman, A. Nir, Awad Sror, Ann Saada
{"title":"Measurement of troponin-T in dried blood spots and dried plasma spots: A pilot study","authors":"Yotam Almagor, S. Eventov-Friedman, A. Nir, Awad Sror, Ann Saada","doi":"10.1055/s-0036-1586475","DOIUrl":"https://doi.org/10.1055/s-0036-1586475","url":null,"abstract":"Abstract Troponin-T (TnT) is a biomarker for cardiac insult, but its significance as a cardiac biomarker in neonates is unclear. A method for measuring TnT in dried blood spots (DBS), which are used worldwide for neonatal screening, will enable access to a very large potential database. We tested concentrations of TnT in dried blood and dried plasma and compared results to the TnT concentrations in the original fresh blood. Troponin results in dried blood were significantly changed and did not allow sufficient test resolution. In contrast, troponin concentrations in dried plasma correlated well to those of all original samples tested. Our preliminary results suggest that TnT can accurately be measured in dried plasma, but TnT concentrations in dried blood are detectable only if troponin values are significantly elevated.","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"04 1","pages":"153 - 157"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58159796","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":"Cytokines, vitamins and atopic dermatitis","authors":"H. Young","doi":"10.1055/s-0036-1586471","DOIUrl":"https://doi.org/10.1055/s-0036-1586471","url":null,"abstract":"In the manuscript by Kamel and colleagues, the authors investigated the levels of cytokines and vitamins C and E in children (ages 6–10) with acute atopic dermatitis (AD) and adolescents (ages 12–20) with chronic atopic dermatitis. Their results showed that the children with acute AD had higher levels of IL-4 and IL-10 while the adolescents had higher levels of IL-12, IL-18, IFN-γ and TNF-α. The authors discuss this data in the context of acute disease being con-verted to chronic disease through a switch from a TH2 cytokine dominated host environment to a TH1 cytokine dominated environment and suggest that the administration of low levels of IFN-γ might prove to be therapeutic to those children with acute disease. Interestingly, they","PeriodicalId":89425,"journal":{"name":"Journal of pediatric biochemistry","volume":"04 1","pages":"125 - 126"},"PeriodicalIF":0.0,"publicationDate":"2014-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"58159682","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}