bluuebunny/crossref_metadata_2025_split huggingface dataset:
The simple detection of neuraminic acid‐containing urinary oligosaccharides in patients with glycoprotein storage diseases
Authors: Sewell A. C. 
Published: February 2006

AbstractUrine samples from patients with different types of glycoprotein storage disease were chromatographed by gel filtration and the fractions analysed for sialic acid. Patients with mucolipidoses I and II excreted the largest amounts of bound sialic acid. One patient with GM1 gangliosidosis showed an abnormal level of sialyloligosaccharide excretion. Other patients showed normal results. With the present method mucolipidoses I and II, together with GM1 gangliosidosis, are readily distinguished from other possible oligosaccharidurias.
Increased sensitivity of cerebrohepatorenal syndrome fibroblasts to antimycin A
Authors: Kelley R. I. , Corkey B. E. 
Published: February 2006

AbstractThe effect of four mitochondrial electron transport inhibitors on the growth of normal and cerebrohepatorenal syndrome (CHRS) fibroblasts was studied. Compared to normal fibroblasts, CHRS cells demonstrated a fivefold greater sensitivity to antimycin A, an inhibitor of the cytochrome bc1 complex (complex III), but equal inhibition by amytal, rotenone and 2‐heptyl‐4‐hydroxyquinoline‐N‐oxide. The results suggest a primary or secondary functional deficiency at mitochondrial complex III in fibroblasts.
A new French‐Canadian family affected by hyperargininaemia
Authors: Qureshi I. A. , Letarte J. , Ouellet R. , Larochelle J. , Lemieux B. 
Published: February 2006

AbstractA new French‐Canadian family from the province of Quebec is reported, in which a male child was diagnosed as hyperargininaemic after showing positive tests for cystimuria on neonatal screening. The child has no residual activity of erythrocyte arginase, and a plasma arginine level of 633 μmol/l. Both parents have 32–38% of arginase activity. A newborn sister has normal enzyme levels. The propositius did not show abnormal plasma ammonia elevation even after a protein tolerance test (1.5 g protein/kg body weight) but excretes high levels of urinary orotate (845 mg/g creatinine). At 3 1/2 years of age the hyperargininaemic child had started showing abnormal gait, ataxia and slowing of intellectual development. It is suggested that all newborn children showing cystimuria‐lysinuria pattern of amino acid excretion be tested for arginase deficiency.
Congenital alopecia, psychomotor retardation, convulsions in two sibs of a consanguineous marriage
Authors: Perniola T. , Krajewska G. , Carnevale F. , Lospalluti M. 
Published: February 2006

AbstractA family is described in which two sibs of a consanguineous marriage have alopecia, convulsions, EEG anomalies and mental retardation. Although the children have significant features resembling those described by Moynahan, this syndrome appears to be different in the mode of inheritance and in other aspects (sensorineural hearing loss in the male, syndactyly in the female).
The 4‐methylumbelliferone sulphate sulphatases of human tears
Authors: Jordan T. W. , Heiss F. , Monk B. , Nicholls J. 
Published: February 2006

AbstractThe properties of human tear 4‐methylumbelliferone sulphate sulphatase (EC 3.1.6.1) have been investigated. More than 80% of the enzyme activity behaved as the acidic A isoenzyme on isoelectric focusing and DEAE‐cellulose ion exchange chromatography. The distribution of enzyme activity in a normal population has been investigated. The least interindividual variation was seen when enzyme activities were calculated as units per mg tears. The α‐galactosidase. Β‐N‐acetylglucosaminidase and sulphatase enzyme activities in human tears varied independently of each other. The use of tear sulphatases for the detection of metachromatic leukodystrophy (McKusick 24980) is discussed.
Glycine transport by cultured skin fibroblasts from a patient with isolated hyperglycinuria
Authors: Fénéant M. , Moatti N. , Lemonnier F. , Maccario J. , Gautier M. , Charpentier C. , Lemonnier A. 
Published: February 2006

AbstractGlycine transport is studied in cultured skin fibroblasts from a patient with isolated hyperglycinuria and from five normal subjects. Fibroblasts from the patient take up glycine less well than do cell lines from controls. Kinetic studies are consistent with a single transport system in the patient's and controls' cell lines.Vmax value in the hyperglycinuric lines is normal, but the apparent affinity is always reduced as opposed to those of four different control lines separately tested. Statistical analysis shows significant difference betweenKm values.
L‐2‐Hydroxyglutaric aciduria: an inborn error of metabolism?
Authors: Duran M. , Kamerling J. P. , Bakker H. D. , van Gennip A. H. , Wadman S. K. 
Published: February 2006

AbstractA 5‐year‐old boy, excreting large amounts of 2‐hydroxyglutaric acid in the urine (3.3–7.6 mmol/l), is described. The patient presented with psychomotor retardation and dystrophy. His skeletal age was delayed. The EEG was not well differentiated; it resembled that observed in 2‐year‐old children. There was a severe anaemia, which reacted well to iron supplements. The 2‐hydroxyglutaric acid was found to have thel‐configuration, as analysed by capillary gas chromatography of theO‐acetylated di‐(‐)‐2‐butyl ester derivative. The relation ofl‐2‐hydroxyglutarate excretion to known metabolic pathways is discussed.
Is pyruvate carboxylase involved in the renal tubular reabsorption of bicarbonate?
Authors: Buist N. R. M. 
Published: February 2006

AbstractThe co‐existence of a hereditary defect of pyruvate carboxylase activity along with proximal renal tubular acidosis in several patients prompted the following theories:

Some of the bicarbonate which is normally reabsorbed from the glomerular filtrate is trapped in the mitochondria by pyruvate carboxylase in the conversion of pyruvate to oxaloacetate. The subsequent conversion of oxaloacetate to phosphoenol pyruvate releases CO2 in the cytosol.

The trapping of HCO3− by pyruvate (or other carboxylases) provides an important route for the recovery of filtered HCO3−.

The process of trapping HCO3− from the glomerular filtrate followed by release of CO2 in the cytosol contributes to the apparently high RQ of kidney, since the CO2 does not originate from a metabolic fuel.

Lactate and possibly other fuels are actively taken up by the kidney and are used as energy sources. Diversion of lactate for gluconeogenesis may contribute to the ‘excess substrate uptake’ phenomenon.

It is possible that some of the glucose which is synthesized in the cortex is used for glycolysis in the medulla. Conversely, lactate produced in the medulla may be available to the cortex for bicarbonate trapping and thus for gluconeogenesis.
Inherited metabolic disease in laboratory animals: a review
Authors: Bulfield G. 
Published: February 2006

AbstractResearch on the screening for and study of animal models of inherited metabolic disease is reviewed. It is emphasized that an animal model, to be of value, must be an inherited deficiency of the same enzyme as the one deficient in the human syndrome. If this criterion is adhered to there is a remarkable identity in aetiology between animal and man. Specific examples of inherited metabolic disease in laboratory animals are described for: amino acid metabolism, lysosomal storage diseases, carbohydrate metabolism, transport disorders and trace element metabolism; the mutants found in mice being the easiest to manipulate biochemically and genetically. There is still a lack of adequate screening programmes for animal homologues of the more serious human inborn errors (such as lysosomal storage diseases) where laboratory studies could provide significant advances in therapy.
Diet termination in children with phenylketonuria: a review of psychological assessments used to determine outcome
Authors: Waisbren S. E. , Schnell R. R. , Levy H. L. 
Published: February 2006

AbstractThis paper reviews the 19 published studies that have utilized psychological assessments in determining the outcome of children with phenylketonuria who have discontinued a phenylalanine‐restricted diet. About half the studies showed that, after diet termination, the intellectual performance of children decreased, while the other studies indicated that the intellectual performance of the children did not change. Difficulties in the use of intelligence tests to answer questions about diet termination are outlined. Due to the methodological difficulties and the varying results reported, the issue concerning the safety of diet discontinuation remains unresolved. The conclusion is that the task now is to differentiate those children who should remain on the diet from those who may safely terminate.
Abnormal copper metabolism in cultured fibroblasts from patients with Wilson's disease
Authors: Camakaris J. , Ackland L. , Danks D. M. 
Published: February 2006

AbstractSkin fibroblasts derived from patients with Wilson's disease have, under certain conditions, elevated concentrations of copper. However, the levels of intracellular copper varied from one experiment to another and the reason for this inconsistency has not yet been determined.64Cu retention after 24 hours and its release in ‘chase’ experiments was not abnormal, thus distinguishing these fibroblasts from Menkes' syndrome fibroblasts. The data provides evidence that the mutant gene responsible for Wilson's disease is expressed in fibroblasts under certain conditions.
Probabilistic Multidimensional Scaling: Complete and Incomplete Data
Authors: Zinnes Joseph L. , MacKay David B. 
Published: February 2006

Simple procedures are described for obtaining maximum likelihood estimates of the location and uncertainty parameters of the Hefner model. This model is a probabilistic, multidimensional scaling model, which assigns a multivariate normal distribution to each stimulus point. It is shown that for such a model, standard nonmetric and metric algorithms are not appropriate.A procedure is also described for constructing incomplete data sets, by taking into consideration the degree of familiarity the subject has for each stimulus. Maximum likelihood estimates are developed both for complete and incomplete data sets.
The Irish Sea cod recovery plan: some lessons learned
Authors: Kelly Ciaran J. , Codling Edward A. , Rogan Emer 
Published: February 2006

AbstractHistorically, cod has been one of the most important fish stocks in the North Atlantic. Recent stock collapses have been attributed to overfishing, and in February 2000 the European Commission established a closed area in the Irish Sea as part of a general recovery plan. The recovery plan was further revised and implemented between 2001 and 2005. However, the recovery plan has not provided the expected benefit, and the stock is still thought to be below the safe limit of Blim = 6000 t. We use stochastic simulations to investigate possible stock trajectories over a seven-year period from 1999 to 2005 under various scenarios of fishing mortality. Comparing the results of simulations with reality, it is clear that more drastic action is required if the stock is to recover in the medium term. The recovery plan was not explicitly designed to deal with uncertainty in the system, and this, we believe, resulted in the failure to meet the recovery plan objectives.
Deep neck infection as the main initial presentation of primary head and neck cancer
Authors: Wang Cheng-Ping , Ko Jenq-Yuh , Lou Pei-Jen 
Published: February 2006

Objectives: Primary head and neck cancer and deep neck infection are not uncommon, but deep neck infection as the initial presentation of primary head and neck cancer is rare and these patients risk potential misdiagnosis.Materials and methods: The records of 301 patients with deep neck infection and 3337 patients with primary head and neck cancers from 1990 to 2002 were retrospectively reviewed. Patients with primary head and neck cancers who had deep neck infection as their initial presentation were enrolled.Results: Seven patients were identified (six men and one woman). The median age was 64 years. All patients presented with painful, erythematous neck swelling and all image studies showed abscess formation. Four abscesses received needle aspiration and three received surgical drainage, which yielded malignant cells in four specimens. The primary origins of malignancies were the nasopharynx (two patients), oropharynx (two patients), hypopharynx (one patient), parotid gland (one patient) and maxillary sinus (one patient). All patients had stage IV disease. Only three patients could receive curative therapy and only one patient was disease-free after three years.Conclusion: We suggest that detailed history-taking, complete examination of the ENT field and pathological study of the infected tissue must be performed for patients with deep neck infection to enable early detection and prompt treatment of any underlying malignancy.
Bilateral aplasia of parotid glands correlated with accessory parotid tissue
Authors: Antoniades D Z , Markopoulos A K , Deligianni E , Andreadis D 
Published: February 2006

Congenital absence of major salivary glands, especially the parotid gland, is a rare entity. It is usually monolateral and is not correlated with accessory salivary gland tissue. Aplasia of parotid gland may occur alone or in association with abnormalities of other salivary glands, first branchial arch developmental disturbances or other congenital anomalies.We report an interesting case of bilateral aplasia of the parotid glands together with bilateral accessory parotid tissue, without other congenital or developmental anomalies, and we describe the clinical and radiological findings.
Efficient dictionary-based text rewriting using subsequential transducers
Authors: MIHOV S. , SCHULZ K. U. 
Published: February 2006

AbstractProblems in the area of text and document processing can often be described astext rewriting tasks: given an input text, produce a new text by applying some fixed set of rewriting rules. In its simplest form, a rewriting rule is given by a pair of strings, representing a source string (the “original”) and its substitute. By a rewriting dictionary, we mean a finite list of such pairs; dictionary-based text rewriting means to replace in an input text occurrences of originals by their substitutes. We present an efficient method for constructing, given a rewriting dictionaryD, a subsequential transducerthat accepts any texttas input and outputs the intended rewriting result under the so-called “leftmost-longest match” replacement with skips,t'. The time needed to compute the transducer is linear in the size of the input dictionary. Given the transducer, any texttof length |t| is rewritten in a deterministic manner in timeO(|t|+|t'|), wheret' denotes the resulting output text. Hence the resulting rewriting mechanism is very efficient. As a second advantage, using standard tools, the transducer can be directly composed with other transducers to efficiently solve more complex rewriting tasks in a single processing step.
Water consumption by rusa deer (Cervus timorensis) stags as influenced by different types of food
Authors: Kii W. Yape , Dryden G. McL. 
Published: February 2006

AbstractDuring winter in southern Queensland, eight rusa deer stags aged 4 years were given ad libitum lucerne (Medicago sativa) hay and confined in individual metabolism pens for 26 days. Stags ate 2·04 kg dry matter (DM) per day and drank 6·4 kg water per day, while the drinking water: food DM ratio was 3·3 l/kg. In experiment 2, seven rusa stags were given ad libitum lucerne hay or oaten (Avenaspp.) hay with or without barley grain supplementation (200 g/day) for 56 days (four periods). This experiment was conducted from 26 July to 19 September 2001, when the stags were exhibiting the behaviour characteristic of the rut. Rusa stags ate 1·19 and 1·17 kg DM per day of lucerne and oaten hay respectively. Rusa stags given oaten hay drank slightly more water than those that received lucerne hay (5·34 and 4·47 kg/day, respectively). The drinking water: food DM ratios were 3·81 and 4·67 kg/kg for lucerne and oaten hay, respectively. Barley grain supplementation (200 g/day) had no influence on total food or water intakes of the rusa stags.
The effect of digestible undergradable protein (DUP) content of concentrates on colostrum production and lamb performance of triplet-bearing ewes on grass-based diets during late pregnancy
Authors: Annett R. W. , Carson A. F. , Dawson L. E. R. 
Published: February 2006

AbstractAn experiment was carried out to investigate the effects of increasing the digestible undegradable protein (DUP) concentration of concentrates on colostrum production and lamb output from prolific ewe breed types. Sixty triplet-bearing ewes with a mean condition score of 3.75 were allocated to one of five treatments (no. =; 12) for the final 6 weeks of pregnancy. Four of the treatments were offered a restricted grass diet (0.6 kg dry matter (DM) per day) plus one of four isoenergetic and isonitrogenous concentrates (0.56 kg DM per day) that were formulated to provide 25 (P25); 40 (P40); 75 (P75) and 95 (P95) g DUP/kg DM. Control ewes were offered a grass-only diet with the aim of achieving an equivalent total DM intake (1.16 kg DM per day). Concentrate composition had no effect on total diet DM, crude protein or metabolizable energy intakes, but the intake of DUP increased with increasing concentrate DUP level (P< 0.001). Supplementing grass with concentrates led to significant reductions in plasma β-hydroxybutyrate (P< 0.05) and non-esterified fatty acids(P< 0.001) concentrations. Plasma urea concentration tended to be negatively and linearly related to the concentrate DUP level (P< 0.1). Colostrum production and composition were not affected by concentrate type, except for the concentration of gross energy which was highest for P40 ewes. Concentrate feeding led to significant (P< 0.05) increases in colostrum yield 18 h post lambing and colostral outputs of ash, crude protein, total solids and gross energy but resulted in a lower (P< 0.05) colostral immunoglobulin G concentration. Lamb birth weight and total litter weight were not affected by late pregnancy feeding regime. However lamb survival to weaning was reduced significantly (P< 0.05) for P25 and control ewes, resulting in lower levels of lamb output at weaning. The results from this study indicate that offering rumen undegradable rather than rumen degradable protein has no effect on colostrum production and lamb performance when ewes are offered high quality grass-based diets in late pregnancy.
Effect of forage type and proportion of concentrate in the diet on milk fatty acid composition in cows given sunflower oil and fish oil
Authors: Shingfield K. J. , Reynolds C. K. , Lupoli B. , Toivonen V. , Yurawecz M. P. , Delmonte P. , Griinari J. M. , Grandison A. S. , Beever D. E. 
Published: February 2006

AbstractBased on the potential benefits ofcis-9,trans-11 conjugated linoleic acid (CLA) for human health there is a need to develop effective strategies for enhancing milk fat CLA concentrations. In this experiment, the effect of forage type and level of concentrate in the diet on milk fatty acid composition was examined in cows given a mixture of fish oil and sunflower oil. Four late lactation Holstein-British Friesian cows were used in a 4 × 4 Latin-square experiment with a 2 × 2 factorial arrangement of treatments and 21-day experimental periods. Treatments consisted of grass (G) or maize (M) silage supplemented with low (L) or high (H) levels of concentrates (65 : 35 and 35 : 65; forage : concentrate ratio, on a dry matter (DM) basis, respectively) offered as a total mixed ration at a restricted level of intake (20 kg DM per day). Lipid supplements (30 g/kg DM) containing fish oil and sunflower oil (2 : 3 w/w) were offered during the last 14 days of each experimental period. Treatments had no effect on total DM intake, milk yield, milk constituent output or milk fat content, but milk protein concentrations were lower (P< 0.05) for G than M diets (mean 43.0 and 47.3 g/kg, respectively). Compared with grass silage, milk fat contained higher (P< 0.05) amounts of C12:0, C14:0, trans C18:1and long chain ≥ C20 (n-3) polyunsaturated fatty acids (PUFA) and lower (P< 0.05) levels of C18:0and trans C18:2when maize silage was offered. Increases in the proportion of concentrate in the diet elevated (P< 0.05) C18:2(n-6) and long chain ≥ C20 (n-3) PUFA content, but reduced (P< 0.05) the amount of C18:3(n-3). Concentrations oftrans-11 C18:1in milk were independent of forage type, but tended (P< 0.10) to be lower for high concentrate diets (mean 7.2 and 4.0 g/100 g fatty acids, for L and H respectively). Concentrations oftrans-10 C18:1were higher (P< 0.05) in milk from maize compared with grass silage (mean 10.3 and 4.1 g/100 g fatty acids, respectively) and increased in response to high levels of concentrates in the diet (mean 4.1 and 10.3 g/100 g fatty acids, for L and H, respectively). Forage type had no effect (P> 0.05) on total milk conjugated linoleic acid (CLA) (2.7 and 2.8 g/100 g fatty acids, for M and G, respectively) orcis-9,trans-11 CLA content (2.2 and 2.4 g/100 g fatty acids). Feeding high concentrate diets tended (P< 0.10) to decrease total CLA (3.3 and 2.2 g/100 g fatty acids, for L and H, respectively) andcis-9,trans-11 CLA (2.9 and 1.7 g/100 g fatty acids) concentrations and increase milktrans-9,cis-11 CLA andtrans-10,cis-12 CLA content. In conclusion, the basal diet is an important determinant of milk fatty acid composition when a supplement of fish oil and sunflower oil is given.
Specialized Runge-Kutta methods for index 2 differential-algebraic equations
Authors: Jay Laurent 
Published: February 2006

We consider the numerical solution of systems of semi-explicit index

2
2

differential-algebraic equations (DAEs) by methods based on Runge-Kutta (RK) coefficients. For nonstiffly accurate RK coefficients, such as Gauss and Radau IA coefficients, the standard application of implicit RK methods is generally not superconvergent. To reestablish superconvergence projected RK methods and partitioned RK methods have been proposed. In this paper we propose a simple alternative which does not require any extra projection step and does not use any additional internal stage. Moreover, symmetry of Gauss methods is preserved. The main idea is to replace the satisfaction of the constraints at the internal stages in the standard definition by enforcing specific linear combinations of the constraints at the numerical solution and at the internal stages to vanish. We call these methods specialized Runge-Kutta methods for index

2
2

DAEs (SRK-DAE

2
2

).