Predicting the risk of cobalt deprivation in grazing livestock from soil composition data

The objective was to derive predictive equations for acetic acid-extractable cobalt (A-ECo) in soils so that extensive national databases for total (T) Co in soils and stream sediments could be converted to plant available concentrations for the purpose of predicting risk of Co deficiency in grazing livestock. Data on the chemical and physical properties of 103 soils from 15 different parent materials and 54 soil series in England and Wales were used. Ranges for the mean values for parent materials were: TCo, 5.0–20.4 and A-ECo, 0.20–1.30 mg kg^–1; percentage (P) A-ECo, 3.4–13.5; soil manganese (Mn) 268–1174 mg kgDM^–1; pH, 3.7–8.0. There were significant effects of parent material on all parameters with Chalks, Old and New Red Sandstones particularly low in A-ECo. Multiple linear regression yielded the following equation for predicting A-ECo, which accounted for 56% of the variance with 12 outliers, including the lowest pH values, omitted:A-ECo(mg kg^-1) = 1.4 - 0.0619TCo (mg kg^-1) - 0.432TMn(g kg^-1) - 0.171pHPrediction of PA-ECo was less precise:PA-ECo(%) = 21.1 - 4.5TMn(g kg^-1) - 1.77pH(r ² = 44.8%; 88 d.f.REML was used on the complete, unbalanced, log-transformed data set to fit a Generalised Mixed Model with parent material as random effect and soil Mn and pH as fixed effects; the effect of parent material was no longer significant. It was concluded that A-ECo can be satisfactorily predicted for most soils in England and Wales from TCo, TMn and soil pH.     

Prenatal diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency by amniotic fluid steroid analysis

The concentration of 17OH-progesterone was measured in second trimester amniotic fluid samples from 12 mothers who previously had had an infant with congenital adrenal hyper-plasia due to 21-hydroxylase deficiency. In 4 affected pregnancies, the concentrations were more than 2 S.D. higher than those determined in 44 samples from normal pregnancies (mean ± S.D., 8·1 ± 2·4 nmol/1). The remaining 8 pregnancies were predicted to be unaffected based on the results of amniotic fluid concentrations within the normal range. In each instance, the infant was normal. The results indicate that measurement of amniotic fluid 17OH-progester-one concentrations during the second trimester is an accurate prenatal test for 21-hydroxylase deficiency. The results should be supplemented with determination of fetal sex by karyotype analysis on the amniotic fluid cells.     

Isolated sulfite oxidase deficiency: mutation analysis and DNA-based prenatal diagnosis

Isolated sulfite oxidase deficiency is an autosomal recessive, neurological disorder resulting from a defect in SUOX, the gene encoding the enzyme that catalyzes the terminal reaction in the sulfur amino acid degradation pathway. In its classical, severe form, sulfite oxidase deficiency leads to intractable seizures, severe and progressive brain pathology and death at an early age. We report here on clinical features and mutational analysis of the genetic defect in a newborn with sulfite oxidase deficiency. Cultured fibroblasts from this patient exhibited no detectable sulfite oxidase activity, and a unique four base pair deletion was present in the cDNA isolated from the same source. Identification of the same genetic defect in a heterozygous state in each of the parents and the monitoring of subsequent pregnancies in this family by DNA-based prenatal diagnosis are also described. The deletion mutation was identified in a homozygous state in uncultured chorionic villus tissue from the second pregnancy that was subsequently terminated. In the third pregnancy, the presence of sulfite oxidase activity and identification of the mutation in a heterozygous state suggested that the fetus was not affected. This pregnancy resulted in the birth of a normal child. Copyright © 2002 John Wiley & Sons, Ltd.     

Severe drought and the vitamin A status of rural pre-school children in India

A community-based cross-sectional study was carried out in six drought-affected areas of India in 2003 to assess the impact of drought on the vitamin A status of 3,657 rural pre-school children. The prevalence of Bitot's spots was found to be significantly (p < 0.01) higher (1.8 per cent) during drought (odds ratio (OR) = 2.0; 95 per cent confidence interval: 1.6 -2.7). The dietary intake of vitamin A was lower during drought and in 81 per cent of households it was less than 50 per cent of the recommended rate. Severe drought has an adverse impact on the vitamin A status of rural pre-school children, particularly those with illiterate mothers and belonging to an older age group (p < 0.01). Communities need to be sensitised, therefore, to vitamin A deficiency through health and nutrition education, and there needs to be wider coverage of vitamin A supplementation, particularly among children in drought-affected and drought-prone areas.     

Novel mutations in the human CYP21 gene

The great majority of genetic defects underlying steroid 21-hydroxylase deficiency appear to result from intergenic recombinations between the homologous CYP21 and CYP21P genes. For a minority, novel sporadic point mutations have been detected. De novo mutations in CYP21 have also been reported, but only a few studies have systematically screened their occurrence. We here describe a population-based patient sample in order to estimate the rate of single-family (i.e. sporadic) and de novo germline mutations in the human CYP21 locus. Among 76 Finnish families were observed three single-family mutations and two de novo mutations in CYP21. The rates obtained, ∼5% and ∼2% for novel and de novo mutations, respectively, indicate that they are not rare and that their occurrence should not be ignored in genetic diagnostics of this disorder. Copyright © 2001 John Wiley & Sons, Ltd.     

Evaluation of a fetus at risk for dihydropteridine reductase deficiency by direct mutation analysis using denaturing gradient gel electrophoresis

Dihydropteridine reductase (DHPR) is an enzyme involved in the recycling of tetrahydrobiopterin (BH₄), which is an obligate co-factor of the aromatic amino acid hydroxylases. DHPR deficiency is a rare, autosomal recessive disorder caused by mutations in the QDPR gene. DHPR-deficient patients are diagnosed by a lack of response to a low phenylalanine diet and by severe neurological symptoms. Final diagnosis is made by measurements of neurotransmitters and pterin metabolites in cerebrospinal fluid (CSF) and urine, in addition to DHPR enzyme activity, which can be assessed in whole red blood cells. Treatment of DHPR deficiency can be difficult and the outcome is not always satisfying, even if all treatment strategies are followed. Therefore prenatal diagnosis is of great importance in affected families. Prenatal diagnosis is possible by measuring DHPR activity in different cell types but this is time consuming. More than 25 different mutations have to date been identified in the QDPR gene and direct identification of a mutation in a fetus would be easy and rapid. We have developed a method based on denaturing gradient gel electrophoresis (DGGE) for the analysis of the QDPR gene. The method is useful for rapid and simultaneous scanning of all exons and flanking intronic sequences of the QDPR gene. We describe the first prenatal diagnosis conducted using this method. Copyright © 2001 John Wiley & Sons, Ltd.     

Prenatal determination of uridine diphosphate galactose-4-epimerase activity

A prenatal diagnosis has been performed in a pregnancy at risk for uridine diphosphate galactose-4-epimerase deficiency, an enzyme variation causing severe symptoms in the neonatal period similar to those of classical galactosaemia. The postnatal enzyme investigation, and uneventful development of the child, indicate that the prediction of an unaffected, heterozygous, fetus was correct.     

Developmental stress affects song learning but not song complexity and vocal amplitude in zebra finches

Several recent studies have tested the hypothesis that song quality in adult birds may reflect early developmental conditions, specifically nutritional stress during the nestling period. Whilst all of these earlier studies found apparent links between early nutritional stress and song quality, their results disagree as to which aspects of song learning or production were affected. In this study, we attempted to reconcile these apparently inconsistent results. Our study also provides the first assessment of song amplitude in relation to early developmental stress and as a potential cue to male quality. We used an experimental manipulation in which the seeds on which the birds were reared were mixed with husks, making them more difficult for the parents to obtain. Compared with controls, such chicks were lighter at fledging; they were thereafter placed on a normal diet and had caught up by 100 days. We show that nutritional stress during the first 30 days of life reduced the birds’ accuracy of song syntax learning, resulting in poorer copies of tutor songs. Our experimental manipulations did not lead to significant changes in song amplitude, song duration or repertoire size. Thus, individual differences observed in song performance features probably reflect differences in current condition or motivation rather than past condition.