Journal of Pediatric Biochemistry - Volume 3, issue 4

Authors: D'Angio, Carl T.

Article Type: Research Article

DOI: 10.3233/JPB-130096

Citation: Journal of Pediatric Biochemistry, vol. 3, no. 4, pp. 179-180, 2013

Authors: Lindegren, Mary Louise | Krishnaswami, Shanthi | Reimschisel, Tyler | Fonnesbeck, Christopher | Sathe, Nila A. | McPheeters, Melissa L.

Article Type: Research Article

Abstract: Individuals with phenylketonuria (PKU) have defective enzyme activity, leading to toxic accumulation of phenylalanine (Phe) in blood and tissues. Adherence to a Phe-restricted diet can mitigate poor outcomes; however, dietary restriction is difficult. Large neutral amino acids (LNAAs), which putatively decrease brain Phe concentration, have been suggested as a potential supplementary treatment in addition to a Phe-restricted diet. To systematically review evidence regarding LNAA usage in individuals with PKU, we searched 5 …databases including Medline up to August 2011 and the reference lists of included articles. Two reviewers independently assessed studies against predetermined inclusion/exclusion criteria. Two reviewers independently extracted data regarding participant and intervention characteristics and outcomes; using their extracted data, they assigned overall quality and strength of evidence ratings based on predetermined criteria. Three small studies (two randomized controlled trials and one uncontrolled open label trial) of fair to poor quality investigated LNAAs. The studies included a total of 47 participants with severe PKU between 11 and 45 years of age receiving LNAAs for 1 to 8 weeks. In all three studies, blood Phe decreased after one week of treatment, but remained above clinically acceptable levels. The one trial measuring correlation between blood and brain Phe found no association. Research on adjuvant therapy in PKU to complement dietary restriction is early in its development and substantially more work is needed. The three very small studies of LNAAs to date cannot be considered as more than proof of concept. Show more

Keywords: Phenylketonuria, PKU, neutral amino acids, dietary supplements

DOI: 10.3233/JPB-130091

Citation: Journal of Pediatric Biochemistry, vol. 3, no. 4, pp. 181-186, 2013

Authors: Ray, Amitabha | Barreto, Stephany C. | Armstrong, Este | Dogan, Soner

Article Type: Research Article

Abstract: Early diagnosis of cancer clearly reduces morbidity and mortality, and a sizable number of cancers could be prevented at the secondary level with appropriate diagnostic tools. In early detection, biochemical analyses are highly supportive of the cytological and/or histopathological assessments. Among children, cancers probably originate from altered signaling pathways attributable to developmental genetic disorders. In adults, generally preventable risk factors, e.g., cigarette smoking, infections, unhealthy lifestyle and obesity, create a state of …inflammation and associated oxidative imbalance, which may progress to malignancy. Pathological mechanisms of cancer are associated with abnormal expressions of various endogenous molecules that can be used as tumor biomarkers. Evaluation of such markers in different phases along the disease course plays a crucial role in clinical management and prognosis. Definitely, the current trend of active research on neoplastic mechanisms will help the clinical biochemistry laboratories to provide a better service. Show more

Keywords: Preventable cancers, childhood cancers, pathologic mechanisms, clinical biochemistry, laboratory medicine

DOI: 10.3233/JPB-130092

Citation: Journal of Pediatric Biochemistry, vol. 3, no. 4, pp. 187-201, 2013

Authors: Pecoraro, Rossella | Parisi, Giuseppe Fabio | Lanzafame, Angela | Trovato, Antonio | Barone, Patrizia | Leonardi, Salvatore

Article Type: Research Article

Abstract: Urticaria is a heterogeneous group of diseases. All types and subtypes of urticaria share a common distinctive skin reaction pattern, i.e., the development of urticarial skin lesions and/or angioedema. Chronic urticaria/angioedema has traditionally been defined as daily or almost daily symptoms for more than 6 weeks. We searched MedLine database and carried out a manual search with the aim of assessing the possible use of leukotriene receptor antagonists (LTRAs) in children with chronic urticaria (CU). …Leukotrienes (LT) production from mast cells, basophils and eosinophils has been confirmed in CU patients and several studies in adults have shown that LTRAs have beneficial effect in the treatment of this disease. However, there are no studies evaluating the effectiveness of these drugs in children and no evidence that LTRAs could improve urticaria symptoms even in this age group. However, because of safety and good tolerability of montelukast as early as six-month-old, this review could represent an opportunity to encourage researchers to publish controlled trials using antileukotrienes in children with CU. Show more

Keywords: Urticaria, chronic urticaria, angioedema, leukotriene receptor antagonists, children

DOI: 10.3233/JPB-130093

Citation: Journal of Pediatric Biochemistry, vol. 3, no. 4, pp. 203-211, 2013

Authors: Narchi, Hassib

Article Type: Research Article

Abstract: Hypernatremia results from a deficit of total body water in relation to the total body's sodium stores. This is caused by two main mechanisms: 1) net water depletion exceeding sodium losses or 2) increased sodium gain exceeding water gain. Net water depletion occurs when increased water loss exceeds sodium loss, either due to extrarenal losses (increased evaporative water losses, hypernatremic dehydration caused by diarrhea) or to renal losses (central and nephrogenic diabetes insipidus, intrinsic renal …disease). Insufficient water intake occurs with neonatal hypernatremic dehydration secondary to lactation failure, essential hypernatremia or osmoreceptor dysfunction. Increased sodium gain can be caused by iatrogenic hypernatremia, administration of concentrated infant formula, deliberate abusive water restriction and deliberate or non-accidental salt poisoning. Hypernatremia results in a movement of water across cell membranes from the intracellular to the extracellular space, resulting in cellular dehydration, which, in cells of the central nervous system results in brain shrinkage leading to tearing of cerebral blood vessels and neurological complications. As a protective mechanism, idiogenic osmoles accumulate inside the brain cells to help them retain water intracellularly. However this may lead to cerebral edema during rapid rehydration as these idiogenic osmoles attract water inside the neurons. As the appropriate management of hypernatremia invariably depends on the underlying mechanism and cause, a methodical history taking and clinical examination, with the judicious use of laboratory tests will lead to a precise etiological diagnosis to enable appropriate and timely therapy. Show more

Keywords: Sodium, hypernatremia, hypertonicity

DOI: 10.3233/JPB-130094

Citation: Journal of Pediatric Biochemistry, vol. 3, no. 4, pp. 213-224, 2013

Authors: Naseri, Mitra

Article Type: Research Article

Abstract: This study was conducted to review urolithiasis in Asian children with a focus on urinary metabolic factors. A literature search of Pub Med and Google identified pertinent articles from 20 different Asian countries which were subsequently reviewed. A totally of 12.913 children (M/F ratio of 2.37/1) were enrolled in the studies. Hypercalciuria, hyperuricosuria, hyperoxaluria, hypocitraturia and decreased urinary magnesium excretion were reported in 652 of 4509 (14.45%), 276 of 3137 (8.8%), 1053 of 3973 (26.5%), 1940 …of 2846 (68.2%), 32 of 240 (13.3%) of subjects, respectively. Cystinuria was noted in 112 of 4106 (2.7%) and mixed metabolic abnormalities were found in 175 of 724 (24.2%) patients. Association of urinary tract infection with stone disease was common in our series [2454 of 6430; (38.16) cases]. Urologic abnormalities were uncommon and recorded in only 447 of 9788 patients (4.5%). The etiology of stone formation was idiopathic in 731 of 2731 (26.8%) patients. Analysis of 3977 stones indicated that 983 (24.9%) were pure Ca stones, whereas 1579 (40%), 411 (10.4%), 38 (0.95%) and 288 (7.35%) were mixed Ca, uric acid or urate, cystine and struvite stones respectively. The study showed that hypocitraturia and hyperoxaluria are the most common metabolic abnormalities. Overall, calcium was the main component of stones with the except that bladder stones were composed of urate or uric acid alone or in combination with calcium. In addition, uric acid stones which are uncommon among American children were frequently reported in Asian children. Show more

Keywords: Urolithiasis, Asia, children, urinary metabolic abnormalities, urinary tract infection, chemical stone composition, urological anomalies

DOI: 10.3233/JPB-130095

Citation: Journal of Pediatric Biochemistry, vol. 3, no. 4, pp. 225-238, 2013

Authors: Bjørke-Monsen, Anne-Lise | Halvorsen, Thomas | Midttun, Øivind | Ueland, Per Magne

Article Type: Research Article

Abstract: Low birth weight has been associated with chronic low-grade inflammation and later cardiovascular disease. Whether this is related to low birth weight due to premature birth, being born small for gestational age (birth weight below the 10th percentile for gestational age) or variations in postnatal growth patterns is unknown. The objective of this study was to explore the impact of fetal growth restriction versus low birth weight due to prematurity on inflammatory status in later life. …We investigated systemic markers of cell-mediated immune activation, kynurenine/tryptophan ratio and high-sensitive CRP (hs-CRP), in two population-based cohorts of children aged 10 and 17 years, who were born preterm (gestational age ⩽ 28 weeks) or with an extremely-low-birth weight (< 1000 g) (n=4). The controls were sex-and age-matched term-born with appropriate for gestational age birth weight children (n=75). Children born premature and small for gestational age had higher Kyn/Trp and hs-CRP compared to both age-matched preterms with appropriate for gestational age birth weight (p=0.01 and p=0.002, for Kyn/Try ratio and CRP respectively) and controls (p < 0.001 and p=0.001). No significant differences in inflammatory markers were observed between appropriate for gestational age preterms and controls. Our observations suggest that the chronic low-grade immune activation observed in adults born with a low birth weight may be related to fetal growth restriction rather than low birth weight due to prematurity. Show more

Keywords: Cardiovascular disease, birth weight, small for gestational age, kynurenines

DOI: 10.3233/JPB-130097

Citation: Journal of Pediatric Biochemistry, vol. 3, no. 4, pp. 239-246, 2013

Authors: Meenakshi, Balasubramanian | Venkataraman, Raman | Janakiraman, Lalitha

Article Type: Research Article

Abstract: Aim: To study the serum copper, zinc and selenium levels in children with iron deficiency anemia in comparison with healthy controls. Methods: A prospective case control study was conducted over a period of 18 months in a tertiary care children's hospital to study the serum copper, zinc and selenium levels in children with iron deficiency anemia in comparison with healthy controls. A total of 35 children with anemia and 35 controls were enrolled for the study. …Results: The normal serum copper, zinc and selenium levels were 510°C–1530 μg/L, 600°C–1200 μg/L and 55°C–130 μg/L respectively. Mean serum copper, zinc and selenium levels in children with anemia were 1589 ± 529.7, 568 ± 252.8 and 71 ± 41.5 μg/L respectively and in controls the levels were 892 ± 368.3, 890 ± 213.9 and 102 ± 39.2 μg/L (P < 0.05) showing decreased serum zinc and selenium levels and increased copper levels in children with iron deficiency anemia than controls. Conclusion: This study shows that serum zinc and selenium levels are decreased and serum copper levels are increased in children with iron deficiency anemia than controls. Show more

Keywords: Copper, zinc, selenium, anemia, children

DOI: 10.3233/JPB-130098

Citation: Journal of Pediatric Biochemistry, vol. 3, no. 4, pp. 247-252, 2013

Article Type: Other

Citation: Journal of Pediatric Biochemistry, vol. 3, no. 4, pp. 253-255, 2013