Value of serum cystatin C in estimating renal function in children with non-renal solid organ transplantation.

Children with non-renal solid organ transplants are surviving longer, but outcome is complicated by CKD. Accurate and frequent renal function monitoring is imperative to recognize and institute measures early to reverse, prevent, or arrest progression. This study of 59 children determined the accuracy (P30), bias, sensitivity and specificity between measured renal function by NM-GFR, and estimated GFR by three formulas: Filler (serum cystatin C), mSchwartz (serum creatinine), and CKiD (serum cystatin C, creatinine, urea, and height).

Mitochondriome and cholangiocellular carcinoma.

Cholangiocellular carcinoma (CCA) of the liver was the target of more interest, recently, due mainly to its increased incidence and possible association to new environmental factors. Somatic mitochondrial DNA (mtDNA) mutations have been found in several cancers. Some of these malignancies contain changes of mtDNA, which are not or, very rarely, found in the mtDNA databases.

Maternal exposure to bisphenol-A and fetal growth restriction: a case-referent study.

We conducted a case-referent study of the effect of exposure to bisphenol-A on fetal growth in utero in full-term, live-born singletons in Alberta, Canada. Newborns <10 percentile of expected weight for gestational age and sex were individually matched on sex, maternal smoking and maternal age to referents with weight appropriate to gestational age. Exposure of the fetus to bisphenol-A was estimated from maternal serum collected at 15-16 weeks of gestation.

Multifaceted support for a new medical school in Nepal devoted to rural health by a Canadian Faculty of Medicine and Dentistry.

Nepal and Alberta are literally a world apart. Yet they share a common problem of restricted access to health services in remote and rural areas. In Nepal, urban-rural disparities were one of the main issues in the recent civil war, which ended in 2006.

Mitochondrial DNA related cardiomyopathies.

Cardiomyopathies are a heterogeneous group of diseases characterized by impaired heart muscle function. Over the last few years, interest in mitochondrial cardiomyopathies has been galvanized by a number of significant molecular biology discoveries. There is overwhelming evidence that genetic factors play a pivotal role in the pathogenesis of primary cardiomyopathies.

Newborn screening for cystic fibrosis in Alberta: Two years of experience.

On April 1, 2007, Alberta became the first province in Canada to introduce cystic fibrosis (CF) to its newborn screening program. The Alberta protocol involves a two-tier algorithm involving an immunoreactive trypsinogen measurement followed by molecular analysis using a CF panel for 39 mutations. Positive screens are followed up with sweat chloride testing and an assessment by a CF specialist.

Informatics of newborn screening for congenital hypothyroidism in Alberta 2005-08: flow of information from birth to treatment.

Objectives: Alberta maintains a universal screening program for congenital hypothyroidism, a condition which, when treated promptly prevents neurological impairment. Because the program relies on multiple stakeholders working in different areas, it is not known how effective the overall process is in achieving timely treatment initiation. Our objective was to analyze and describe the informatics of this program.

Qualitative metabolome analysis of human cerebrospinal fluid by 13C-/12C-isotope dansylation labeling combined with liquid chromatography Fourier transform ion cyclotron resonance mass spectrometry.

Metabolome analysis of human cerebrospinal fluid (CSF) is challenging because of low abundance of metabolites present in a small volume of sample. We describe and apply a sensitive isotope labeling LC-MS technique for qualitative analysis of the CSF metabolome. After a CSF sample is divided into two aliquots, they are labeled by (13)C-dansyl and (12)C-dansyl chloride, respectively.

The human serum metabolome.

Continuing improvements in analytical technology along with an increased interest in performing comprehensive, quantitative metabolic profiling, is leading to increased interest pressures within the metabolomics community to develop centralized metabolite reference resources for certain clinically important biofluids, such as cerebrospinal fluid, urine and blood. As part of an ongoing effort to systematically characterize the human metabolome through the Human Metabolome Project, we have undertaken the task of characterizing the human serum metabolome. In doing so, we have combined targeted and non-targeted NMR, GC-MS and LC-MS methods with computer-aided literature mining to identify and quantify a comprehensive, if not absolutely complete, set of metabolites commonly detected and quantified (with today's technology) in the human serum metabolome.

Perfluorinated acids and hypothyroxinemia in pregnant women.

Perfluorinated acids (PFAs) are prominent and widespread contaminants of human blood. In animal studies there is evidence that suggests certain PFAs can disrupt thyroid hormone homeostasis. A commonly reported condition in exposed animals is hypothyroxinemia, whereby serum free thyroxine (fT4) is decreased despite normal thyroid stimulating hormone (TSH) concentrations.

Maternal thyroid hormones in early pregnancy and risk of breech presentation.

Objective: To evaluate the relationship between breech presentation at term (>/= 37 weeks of gestation) and maternal thyroid hormone activity in early gestation.

Methods: We conducted a case-control study of thyroid hormone activity in 179 women who delivered a live term infant in breech presentation (cases) and 849 women who delivered a live term infant in cephalic presentation (control subjects). We used serum samples from prenatal screening at 15 to 16 weeks of gestation in 2006 and 2007 in Edmonton, Alberta.

Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut.

Carnitine palmitoyltransferase 1A (CPT1A), encoded by the gene CPT1A, is the hepatic isoform of CPT1 and is a major regulatory point in long-chain fatty acid oxidation. CPT1A deficiency confers risk for hypoketotic hypoglycaemia, hepatic encephalopathy, seizures, and sudden unexpected death in infancy (SUDI). It remains controversial whether the CPT1A gene variant, c.

The impact of isolated maternal hypothyroxinemia on perinatal morbidity.

Objective: To determine whether maternal hypothyroxinemia during early pregnancy is associated with adverse perinatal outcomes.

Methods: Serum samples of a prospective cohort of 879 women collected at 15-16 weeks of pregnancy were analyzed for thyroid-stimulating hormone (TSH) and free thyroxine (T4) concentrations. Women with TSH levels within the normal reference range (0.

Evaluation of the accuracy of self-reported smoking in pregnancy when the biomarker level in an active smoker is uncertain.

Introduction: Our main objective was to estimate smoking prevalence as well as sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) of self-reported smoking among pregnant women in Edmonton, Canada, at 15-16 weeks of gestation.

Methods: We used serum samples to assemble a cohort of pregnant women who underwent an optional second-trimester screening for chromosomal and developmental anomalies. We determined cotinine concentrations for 92 self-reported smokers (11% of the cohort) and for 285 self-reported nonsmoking mothers, using adapted urinary cotinine assay.

The human cerebrospinal fluid metabolome.

With continuing improvements in analytical technology and an increased interest in comprehensive metabolic profiling of biofluids and tissues, there is a growing need to develop comprehensive reference resources for certain clinically important biofluids, such as blood, urine and cerebrospinal fluid (CSF). As part of our effort to systematically characterize the human metabolome we have chosen to characterize CSF as the first biofluid to be intensively scrutinized. In doing so, we combined comprehensive NMR, gas chromatography-mass spectrometry (GC-MS) and liquid chromatography (LC) Fourier transform-mass spectrometry (FTMS) methods with computer-aided literature mining to identify and quantify essentially all of the metabolites that can be commonly detected (with today's technology) in the human CSF metabolome.

Correlation between cystatin C- and renal scan-determined glomerular filtration rate in children with spina bifida.

We report on the relationships between serum cystatin C level, glomerular filtration rate (GFR) estimated from a cystatin C-based prediction equation (that of Filler and Lepage), GFR calculated by the Schwartz formula and technetium 99m-diethylene triamine penta-acetic acid ((99)Tc-DTPA)-determined GFR in 28 children with spina bifida. All children underwent measurement of height, weight, serum cystatin C level, and serum creatinine level at the time of their renal scan. The relationship between variables was assessed by Pearson correlation.

HMDB: the Human Metabolome Database.

The Human Metabolome Database (HMDB) is currently the most complete and comprehensive curated collection of human metabolite and human metabolism data in the world. It contains records for more than 2180 endogenous metabolites with information gathered from thousands of books, journal articles and electronic databases. In addition to its comprehensive literature-derived data, the HMDB also contains an extensive collection of experimental metabolite concentration data compiled from hundreds of mass spectra (MS) and Nuclear Magnetic resonance (NMR) metabolomic analyses performed on urine, blood and cerebrospinal fluid samples.

Biochemistry testing associated with pregnancy and the newborn period -- a lot has changed since you were a baby!

Everyone has been a newborn, and everyone's mother has been pregnant. Despite the commonality of these events, medical care and the clinical chemistry laboratory's role in it have changed remarkably over the last 50 years. This review is a historical overview of clinical chemistry testing that is related to pregnancy and the newborn period.

Incomplete pediatric reference intervals for the management of patients with inborn errors of metabolism.

Objectives: To evaluate the status of pediatric reference intervals for several biomarkers of inborn errors of metabolism (IEM).

Introduction: There are several biomarkers that are used in many laboratories that specialize in biochemical genetics. Among them, there are acylcarnitines, total carnitine, amino acids, essential fatty acids, phytanic acid and very long chain fatty acids.

B-type natriuretic peptide in pediatrics.

Objectives: There has been growing interest in the use of serum B-type natriuretic peptide (BNP) and the N-terminal segment of its pro-hormone (NT-proBNP) as biomarkers for cardiac disease. The aim of this review is to summarize the current state of knowledge regarding BNP and NT-proBNP measurement in the pediatric population.

Design And Methods: A computerized literature search on the National Library of Medicine was done and all articles including BNP and pediatrics were selected and discussed.

Why zygosity of multiple births is not always obvious: an examination of zygosity testing requests from twins or their parents.

This paper examines why parents of twins or adult twins themselves request zygosity testing. Of 405 multiples including 8 sets of triplets, the majority (93%) were monozygotic. Age of testing ranged from 0 days to 73 years.

Mild elevation of N-acetylaspartic acid and macrocephaly: diagnostic problem.

Patients with slightly increased excretion of N-acetylaspartic acid in urine, together with macrocephaly, present a dignostic dilemma for Canavan's disease. We describe a 13-year-old male patient with macrocephaly, mild developmental delay, increased signal intensity in the basal ganglia bilaterally, partial cortical blindness, and retinitis pigmentosa. Although the clinical course and magnetic resonance imaging findings did not resemble typical Canavan's disease, N-acetylaspartic acid excretion in the patient's urine was slightly elevated, 99.

Mechanisms of monozygotic (MZ) twinning: a possible role for the cell adhesion molecule, E-cadherin.

Monozygotic (MZ) twins account for about one-third of all twins. Most MZ twins arise sporadically but there are familial occurrences. The causes of MZ twinning are largely speculative but involve both genetic and environmental factors.