Journal of Pediatric Biochemistry - Volume 2, issue 3

Authors: Martin, Harry

Article Type: Research Article

DOI: 10.3233/JPB-2012-00057

Citation: Journal of Pediatric Biochemistry, vol. 2, no. 3, pp. 123-124, 2012

Authors: Lillehoj, Erik P. | Guang, Wei | Ding, Hua | Czinn, Steven J. | Blanchard, Thomas G.

Article Type: Research Article

Abstract: More than half of the world's population is infected with Helicobacter pylori, which is strongly linked to the development of chronic gastric inflammation (gastritis), peptic ulcer disease, and stomach cancer. However, for unknown reasons, the vast majority of infected individuals are asymptomatic beyond histologic inflammation. This review article will summarize current knowledge on the molecular mechanisms of H. pylori colonization of the gastric mucosa, with a particular focus on the biochemistry of MUC1 …mucin in the host response to bacterial infection. Show more

Keywords: Helicobacter pylori, stomach, epithelium, MUC1 mucin

DOI: 10.3233/JPB-2012-00058

Citation: Journal of Pediatric Biochemistry, vol. 2, no. 3, pp. 125-132, 2012

Authors: Battaglia, Lauren | DeStefano, Michael A. | Hoffman, Andrew | Abali, Emine Ercikan

Article Type: Research Article

Abstract: In the past several decades obesity has become an increasingly problematic public health concern in developed countries. The strong correlation between high birth weights, obesity in adolescence and cancer is now evident. However, the molecular mechanism connecting obesity and cancer has yet to be elucidated. Here we review current literature investigating this relationship at both hormonal and biochemical levels. We also explore recent publications for novel cancer therapies that target pathways in which cancer …manipulates host metabolism. The hormone leptin, which is upregulated in obese individuals, signals satiety and has been shown to play a role in signaling pathways promoting metastasis in a number of different cancers. Furthermore, leptin receptors are increased in some cancers and as a result these cells begin to utilize aerobic glycolysis for energy production as opposed to oxidative phosphorylation. Tumorigenic cells use alternative splicing to select for specific metabolic enzymes, which then serve as metabolic tools to promote tumor proliferation. A hypoxic environment can lead to the activation of AMP-activated protein kinase (AMPK), which in turn activates glycolytic machinery. It also upregulates transcription factors that promote tumor angiogenesis and allow sustained tumor growth. A more detailed understanding of metabolic aberrations due to obesity and their contribution to the onset of cancer is critical for the development of new therapies in the fight against both diseases. Show more

Keywords: Obesity, cancer, energy metabolism, leptin, AMPK, PI3K, mTOR, HIF-1, metformin, 2-deoxy-D-glucose

DOI: 10.3233/JPB-2012-00055

Citation: Journal of Pediatric Biochemistry, vol. 2, no. 3, pp. 133-142, 2012

Authors: Kuchay, Raja A.H. | Mahmood, Akhtar | Mahmood, Safrun

Article Type: Research Article

Abstract: Adult-type hypolactasia is an autosomal recessive condition resulting from the physiological decline of the lactase enzyme activity in intestinal cells which occurs in a significant proportion of the global population. Mechanisms proposed to explain the occurrence of adult-type hypolactasia include: (a) decreased production of lactase, (b) synthesis of an inactive high molecular weight lactase, (c) defective post-translational modifications, and (d) susceptibility of lactase to luminal proteases during weaning due to change in …levels of sialylated and fucosylated enzymes in the small intestine. Recently, the C/T-13910 polymorphism on chromosome 2q21 in North-European populations has been found to be associated with lactase activity and its genetic typing is advocated as a first-stage screening test for adult hypolactasia. Available biochemical methods for diagnosis of adult-type hypolactasia consists of the lactose tolerance test (LTT), which measures the increase in blood glucose after an oral lactose load, and the hydrogen breath test (HBT), that is based on the determination of exhaled hydrogen produced by the bacterial flora in the colon after an oral lactose load. These methods require significant procedural time both for the patient and the processing clinical laboratory. The present review describes genetic regulation of lactase expression and various single nucleotide polymorphisms (SNPs) associated with adult-type hypolactasia and lactase persistence in different human populations. Show more

Keywords: Adult-type hypolactasia, genetic regulation, genetic testing

DOI: 10.3233/JPB-2012-00052

Citation: Journal of Pediatric Biochemistry, vol. 2, no. 3, pp. 143-151, 2012

Authors: Muzaffer, Mohammed A.

Article Type: Research Article

Abstract: This research aimed to study the frequency and the long-term outcome of initial hematological abnormalities in pediatric-Systemic Lupus Erythematosus (p-SLE) among Saudi children. Thirty out of 36 children with SLE (diagnosed according to the revised American College of Rheumatology criteria, between 2000–2011) with hematological abnormalities were included in this prospective study conducted at King Abdulaziz University Hospital, Jeddah, Saudi Arabia. A frequency of 83% (30/36 patients) was estimated for hematological abnormalities in …p-SLE. This frequency is much higher than that found in several other studies. Leukopenia occurred in 40% of the children at presentation and in 13.3% during the course of the illness. Eighty percent of patients (29/36) presented with a normochromic normocytic anemia. Fifteen patients had iron deficiency with a hypochromic microcytic anemia following disease remission at follow up. Other hematologic abnormalities included a Coombs positive hemolytic anemia at presentation in 27%, thrombocytopenia in 20%, and antiphospholipid antibodies in 9%. Most of these hematological abnormalities improved significantly with systemic steroid and immunosuppressive agents (azathioprine, cyclophosphamide, and mycofenolate). One patient with a positive anticardiolipin antibody and lupus anticoagulant experienced thrombotic events. Hematological abnormalities were common in p-SLE, but the course was generally benign. Recurrent hemolysis and steroid toxicity in patients with AIHA remain a challenge for rheumatologists. An evaluation for SLE is critical in children presenting with unexplained hematological abnormalities. Show more

Keywords: Pediatric Systemic Lupus Erythematosus (p-SLE), Autoimmune Hemolytic Anemia (AIHA)

DOI: 10.3233/JPB-2012-00053

Citation: Journal of Pediatric Biochemistry, vol. 2, no. 3, pp. 153-157, 2012

Authors: Mishra, Om P. | Prasad, Rajniti | Atri, Divya | Singh, Surya K. | Ali, Ziledar

Article Type: Research Article

Abstract: The present study was carried out prospectively to evaluate serum lipids and lipoprotein(a) levels in children with nephrotic syndrome during the active phase of disease and during a remission. Serum lipids and lipoprotein(a) levels were measured in 40 children, aged 2–10 years, during the active phase of nephrotic syndrome; 25 with a first attack, 9 infrequent relapsers and 6 frequent relapsers, and during remission and in 20 healthy age-matched controls. The mean serum lipids and lipoprotein(a) …levels were significantly raised during the active phase of nephrotic syndrome (p< 0.001). The values were relatively higher in relapsers. The lipids and lipoprotein(a) levels decreased during a remission but were significantly higher (p< 0.05) than controls. Serum lipids had a negative correlation with serum albumin and lipoprotein(a) had a positive correlation with proteinuria (r=0.5246, p< 0.01) but no correlation with serum albumin. The elevated lipids and lipoprotein(a) in both the active phase of nephrotic syndrome and during remission suggest a possible predisposition to atherosclerosis in future. Show more

Keywords: Lipids, lipoprotein(a), nephrotic syndrome, relapsers

DOI: 10.3233/JPB-2012-00051

Citation: Journal of Pediatric Biochemistry, vol. 2, no. 3, pp. 159-162, 2012

Authors: Shwartz, Rosi | Sheffer, Ruth N. | Mangisto, Geto | Saada, Ann

Article Type: Research Article

Abstract: Mucopolysaccharidoses (MPS) are a heterogeneous group of inherited lysosomal storage disorders (LSDs), due to impaired breakdown of glycosaminoglycans (GAGs), resulting from dysfunctional lysosomal acid hydrolases. Determination of urinary GAG content is a first-line screening assay for MPS. We modified and evaluated a quantitative colorimetric method based on 1,9 Dimethyl-Methylene Blue (DMB) and were able to identify seven new pediatric cases of MPS within a year and subsequently confirmed them by enzymatic analysis. …In addition, three cases with borderline urinary GAG content were subsequently diagnosed with other LSDs. We monitored a child with MPS III (Sanfilippo) type C treated with genistein at a dose of 5 mg/kg/day for over a year and we found no change in urine GAG content. In conclusion: the modified DMB colorimetric method is an, accurate and convenient method for measuring urinary GAGs content and facilitates the diagnosis and monitoring of MPS. Show more

Keywords: Glycosaminoglycans, GAGs, mucopolysaccharidoses, DMB, genistein

DOI: 10.3233/JPB-2012-00054

Citation: Journal of Pediatric Biochemistry, vol. 2, no. 3, pp. 163-167, 2012

Authors: Narayanan, Mundakkassery Pullurmanna | Vaidyanathan, Kannan | Vasudevan, Damodaran Madhavi

Article Type: Research Article

Abstract: The term "organic acidemia" or "organic aciduria" (OA) applies to inborn errors of metabolism (IEM) in which organic acids accumulate in tissues and biological fluids. Classical organic acidurias include methylmalonic aciduria (MMA), propionic aciduria (PA), isovaleric aciduria (IVA) and maple syrup urine disease (MSUD). Aminoacidurias like phenylketonuria are common in the western population. Organic acidemias like MMA, PA and MSUD are more common in Asian countries, especially in India compared with the west. This study was …conducted to determine the prevalence and treatment outcome of organic acidemias in a study population in India. Four hundred and twenty suspected cases of organic acidemias with an upper age limit of twelve years were enrolled over a two years period beteween January, 2007 and December, 2008, with a three years patient follow-up. Screening tests and thin layer chromatography followed by quantification of organic acids in urine and quantification of amino acids in blood by high performance liquid chromatography were done for detection of organic acidemias. Out of 420 patients, 45 patients (10.7%) were found to have organic acidemias, 15 cases of MMA, 16 cases of PA, 13 cases of MSUD, and one case of IVA were identified. Fifteen patients (33.3%) died during the course and remaining 30 are under therapeutic regimen and showed marked clinical improvement. Therapeutic regimens based on protein restriction, sodium bicarbonate (to correct acidosis), L-carnitine and vitamins were given to the patients. Prompt diagnosis helped to provide specific treatment to majority of these patients with rapid improvement in symptomatology. Show more

Keywords: Organic acidemias, maple syrup urine disease, methylmalonic aiciduria, propionic aciduria, isovaleric aciduria, tandem mass spectrometry

DOI: 10.3233/JPB-2012-00056

Citation: Journal of Pediatric Biochemistry, vol. 2, no. 3, pp. 169-176, 2012