bluuebunny/crossref_metadata_2025_split huggingface dataset:
Maple syrup urine disease: Interrelations between branched‐chain amino‐, oxo‐ and hydroxyacids; implications for treatment; associations with CNS dysmyelination
Authors: Treacy E. , Clow C. L. , Reade T. R. , Chitayat D. , Mamer O. A. , Scriver C. R. 
Published: June 2005

SummaryFour patients with classical maple syrup urine disease were treated for up to 5885 days per patient with a relaxed protocol allowing branched‐chain amino acid levels in plasma to rise about 5 times the normal mean value. The patients have had satisfactory development and lifestyle. They spent 318 days in hospital during 19 937 aggregate treatment days. Plasma levels of leucine and the corresponding 2‐oxo acid were shown to be elevated disproportionately relative to the other branched‐chain metabolites. Levels of isoleucine and valine were lower than those of leucine apparently because of runout into alternative metabolite pools, namely theR metabolites for isoleucine and the hydroxyacid for valine. The chronic accumulation of branched‐chain 2‐oxo acid(s) in our patients was associated with chronic dysmyelinating changes in CNS visible by imaging. Another patient with a thiamine‐responsive variant of maple syrup urine disease had five acute crises incurring 29 days in hospital in a total of 6910 treatment days. However, she did not have chronic metabolic dyshomeostasis (her average plasma amino acid values were normal) and she had no evidence of dysmyelination. A relaxed treatment protocol for patients with maple syrup urine disease may benefit them in quality of life, but it apparently exacts a cost in metabolic control and CNS pathology.
A synopsis of the unconjugated acidic transamination metabolites of phenylalanine in phenylketonuria
Authors: Langenbeck U. , Behbehani A. , Mench‐Hoinowski A. 
Published: June 2005

SummaryWe present blood and urine levels of unconjugatedo‐hydroxyphenylacetic, phenyllactic and phenylpyruvic acids in 61 children (2 years of age and above) and juveniles with phenylketonuria on or partially off diet. The samples were obtained during 185 scheduled outpatient visits and have been analysed with gas chromatographic methods. The compiled data define reference ranges of phenylalanine transamination capacity and of renal transport of metabolites which may be of value in further studies on the pathogenesis of phenylketonuria.
Lesch‐Nyhan syndrome and its pathogenesis: Purine concentrations in plasma and urine with metabolite profiles in CSF
Authors: Harkness R. A. , McCreanor G. M. , Watts R. W. E. 
Published: June 2005

SummaryPurine metabolism in the Lesch‐Nyhan syndrome has been re‐examined in 10 patients. Hypoxanthine and xanthine concentrations in plasma and CSF and urinary excretion have been studied, on and off allopurinol treatment, using high performance liquid chromatographic methods. Accumulation of the substrate, hypoxanthine, of the missing hypoxanthine guanine phosphoribosyltransferase (HPRT) enzyme, is more marked in urine and in CSF than in plasma. The greater increase in CSF is consistent with the most metabolically active tissue, brain, showing the most marked functional changes.The function of HPRT seems to be the recycling of hypoxanthine which is released from tissues in increasing quantities as energy use, ATP ‘turnover’, in the tissue increases. The existing screening method for HPRT deficiency, the ratio of the urinary concentration of urate to that of creatinine, shows overlap between the values in severe HPRT deficiency and in controls; this overlap is not found with a urinary hypoxanthine/creatinine molar concentration ratio.
Aminoacidopathies: A review of 3 years experience of investigations in a Kuwait hospital
Authors: Yadav G. C. , Reavey P. C. 
Published: June 2005

SummaryWe present a summary of the results of quantitative amino acid analysis in 800 subjects over a three‐year period in Al‐Sabah Hospital, Kuwait. Thirty‐five patients with aminoacidopathy were identified, all but two of whom were the offspring of first‐degree consanguineous marriages: nine cases of phenylketonuria, one benign hyperphenylalaninaemia, seven non‐ketotic hyperglycinaemia, five tyrosinaemia, five homocystinuria, four citrullinaemia, two cystinuria, one hyperprolinaemia, and one maple syrup urine disease. The clinical and biochemical findings in these cases are described.
Lowβ‐glucuronidase activity in a healthy member of a family with mucopolysaccharidosis VII
Authors: Chabas A. , Giros M. L. , Guardiola A. 
Published: June 2005

SummaryA phenotypically normal mother of a mucopolysaccharidosis VII child, is reported with an unusually lowβ‐glucuronidase activity. Low enzyme activity was systemic (6–10% of controls) and residualβ‐glucuronidase in leukocytes had an apparently normalKm value. [35S]sulphate incorporation and chase assays in fibroblasts gave values similar to control cells. A normal excretion pattern of glycosaminoglycan was found in this woman's urine. Low enzymatic activity can be related to a non‐pathological ‘pseudodeficiency’ allele forβ‐glucuronidase; this woman appears to be an apparent compound heterozygote for this allele and mucopolysaccharidosis VII. Her next pregnancy was monitored by chorionic villus sampling and a heterozygous fetus was suspected. These studies stress the need for complete enzyme investigations of obligate carriers for mucopolysaccharidoses in order to prevent difficulties at prenatal analysis.
Prenatal diagnosis of molybdenum cofactor deficiency by assay of sulphite oxidase activity in chorionic villus samples
Authors: Johnson J. L. , Rajagopalan K. V. , Lanman J. T. , Schutgens R. B. H. , van Gennip A. H. , Sorensen P. , Applegarth D. A. 
Published: June 2005

SummaryMolybdenum cofactor deficiency is characterized by the absence of sulphite oxidase, xanthine dehydrogenase and aldehyde oxidase, the three known enzymes in man that require the cofactor for their activity. Prenatal diagnosis of the deficiency may be performed by assay of sulphite oxidase activity in cultured amniocytes. However, the activity in amniocytes is low and large numbers of cells are required for reliable assessment. We show that sulphite oxidase is present at high levels in chorionic villi obtained at 10–14 weeks gestation and can be assayed directly in the biopsy sample without cell culture. This assay has been applied to two pregnancies at risk for molybdenum cofactor deficiency with successful diagnoses of an unaffected and an affected fetus.
Age‐related differences in plasmalogen content of erythrocytes from patients with the cerebro‐hepato‐renal (Zellweger) syndrome: Implications for postnatal detection of the disease
Authors: Wanders R. J. A. , Purvis Y. R. , Heymans H. S. A. , Bakkeren J. A. J. M. , Parmentier G. G. , van Eldere J. , Eyssen H. , van den Bosch H. , Tager J. M. , Schutgens R. B. H. 
Published: June 2005

AbstractPhosphatidylethanolamine plasmalogen levels were determined in erythrocytes from controls and 13 patients with the cerebro‐hepato‐renal (Zellweger) syndrome. It was found that in Zellweger patients 20 weeks of age or younger, erythrocyte phosphatidylethanolamine plasmalogen levels were lowered whereas in older patients (except in one) normal levels were found. The results obtained suggest a close relationship between the age of the patients at sampling and the phosphatidylethanolamine plasmalogen levels in their erythrocytes. A possible explanation for these findings and the implications for the postnatal detection of Zellweger syndrome are discussed.
The biochemistry of lipoproteins
Authors: Salter A. M. , Brindley D. N. 
Published: June 2005

SummaryLipids are transported in the blood in four major classes of lipoproteins. The triacylglycerol‐rich lipoproteins are chylomicrons and very‐low‐density lipoproteins (VLDL) which are produced by the small intestine and liver, respectively. These lipoproteins mainly carry fatty acids to adipose tissue and muscle where the triacylglycerol is hydrolysed by lipoprotein lipase. The resulting particles that remain in the blood are chylomicron remnants and low‐density lipoprotein (LDL), respectively. The remnant is taken up by the liver via endocytosis which is mediated by a specific receptor for apolipoprotein E (apoE). LDL, which are rich in cholesterol, can also be taken up by the liver or extrahepatic tissues by a receptor‐mediated endocytosis that specifically recognises apoB or apoE. ‘Nascent’ high‐density lipoprotein (HDL) particles are secreted by the liver and intestine and then undergo modification to become HDL3 and then HDL2 as they acquire cholesterol ester. They facilitate the reverse transport of cholesterol back to the liver.Little is known of the hormonal regulation of lipoprotein uptake by the liver. Recently, we have shown that insulin and tri‐iodothyronine (T3) increase the specific binding of LDL to cultured hepatocytes whereas dexamethasone (a synthetic glucocorticoid) has the opposite effect. The changes in binding produced by insulin and dexamethasone are paralleled by alterations in the rate of degradation of apoB. These findings may in part explain the hypercholesterolaemia and increased risk of premature atherosclerosis that can be associated with poorly controlled diabetes or hypothyroidism.
Lipase deficiencies
Authors: Greten H. , Beil F. U. 
Published: June 2005

SummaryTwo enzymes, lipoprotein lipase and hepatic triglyceride lipase, are involved in the hydrolysis of triglycerides from chylomicrons and very low density lipoprotein (VLDL). Lipoprotein lipase has an absolute requirement for apolipoprotein CII for activity. Three inborn errors of metabolism which give rise to hypertriglyceridaemia have been described. The biochemical and clinical aspects of these disorders, lipoprotein lipase deficiency (familial type I hyperlipoproteinaemia), hepatic triglyceride lipase deficiency and apo‐CII deficiency are discussed.
Familial LCAT deficiency and fish‐eye disease
Authors: McIntyre N. 
Published: June 2005

SummaryFamilial LCAT deficiency is due to deficiency of plasma lecithin‐cholesterol acyltransferase. The plasma is rich in free cholesterol and lecithin while cholesterol ester and lysolecithin levels are reduced. Analysis of the abnormal lipoproteins has helped our understanding of plasma lipid and lipoprotein metabolism in normals and in patients with liver disease.Proteinuria and anaemia are common and there is marked corneal lipid deposition. Eventually renal function deteriorates and dialysis and/or renal transplantation may be necessary.The human LCAT gene has been sequenced and been shown to be present on chromosomal segment 16q22 — the region predicted on the basis of recombination studies as the site of the LCAT deficiency gene. The gene defect has been identified in some cases, but the mechanism remains unclear as the mutations were not in the region presumed to be the enzyme's active site.Only three cases of fish‐eye disease have been described; all were elderly and had obvious corneal opacities. They had fasting hypertriglyceridaemia and increased VLDL. IDL and LDL were increased and were triglyceride rich. HDL, reduced by 90%, was mainly HDL3 — with a high free and low ester cholesterol.LCAT activity in fish‐eye plasma was normal but when measured in an exogenous substrate it was only 10–15% of normal. Fish‐eye HDL is a substrate for purified LCAT, but fish‐eye LCAT does not esterify free cholesterol of HDL (normal or fish‐eye), although it esterifies free cholesterol of VLDL and LDL. It has been suggested that one type of LCAT activity acts on HDL (α‐LCAT) and another on VLDL and LDL (β‐LCAT) — and that fish‐eye disease is due toα‐LCAT deficiency, and classical familial LCAT deficiency due to lack of both components.
Biochemical, clinical, genetic and metabolic studies of hyperapo‐β‐lipoproteinaemia
Authors: Kwiterovich P. O. 
Published: June 2005

SummaryHyperapo‐β‐lipoproteinaemia is a common lipoprotein disorder characterized by an elevated plasma level of the major apolipoprotein, B (apoB) of low‐densityβ lipoproteins (LDL), combined with a low ratio of LDL cholesterol to LDL apoB. Hyperapo‐β‐lipoproteinaemia is due to the overproduction of LDL apoB that results from an enhanced synthesis of very low‐density (pre‐β) lipoprotein (VLDL) in liver. The plasma levels of high‐density (α) lipoprotein (HDL) and its major apolipoprotein, A‐I, are often low in hyperapo‐β‐lipoproteinaemia. Hyperapo‐β‐lipoproteinaemia is often familial and aggregates in children and adults from families with premature coronary artery disease. The precise defect(s) that cause hyperapo‐β‐lipoproteinaemia are not known. In a family with premature coronary artery disease and hyperapo‐β‐lipoproteinaemia, a mutation in codon 4046 in exon 29 of the apolipoprotein B gene, a CGG to TGG transition produced a change from arginine, a positively charged amino acid, to tryptophan, a hydrophobic amino acid, at position 4,019 of the mature apolipoprotein B protein. Decreased incorporation of free fatty acids into triglycerides of adipocytes has been describedin vitro, andin vivo studies suggested a defect in clearance of postprandial lipoproteins associated with decreased uptake of plasma free fatty acids.
Recent advances in cystic fibrosis
Authors: McPherson M. A. 
Published: June 2005

SummaryCystic fibrosis, one of the most common lethal inherited disorders in N. European and N. American populations, is characterized by the production of abnormally viscous mucous secretions in the lungs and digestive tract. The pathophysiological basis of the disease is unknown. However, during the last few years, rapid advances in molecular genetics and biochemical and physiological studies on cystic fibrosis epithelial cells have led to optimism that the cystic fibrosis defect will soon be identified. Current evidence suggests that the basic disturbance lies in altered regulation of protein secretion and electrolyte transport leading to an imbalance in composition of epithelial secretions in cystic fibrosis patients. Increasing knowledge of the mechanisms regulating production and secretion of mucins and movement of electrolytes across the cell membrane should lead to development of pharmacological manipulation(s) to correct the cellular abnormality. Ultimately, it is hoped that this will lead to the development of a rational treatment for cystic fibrosis patients.
Determination of serum apolipoprotein B by competitive enzyme‐linked immunoassay
Authors: Reisinger H. , Strobl W. , Hubrich B. , Widhalm K. 
Published: June 2005

SummaryAn enzyme‐linked immunoassay was used to determine apolipoprotein B (apoB) in serum samples from 104 healthy adults aged 18–26 years. The method was compared to radial immunodiffusion (RID). Mean apoB values were 103±30 mg/dl and 105±31 mg/dl respectively. The correlation coefficient for apoB between the two methods wasr=0.70,p<0.001; the correlation coefficient between LDL‐cholesterol and apoB measured by the ELISA wasr=0.73,p<0.001.This ELISA technique seems to be an appropriate method for measuring apoB in plasma, in the clinical laboratory and for detecting individuals with hyperapobetalipoproteinaemia.
Clinical role of pteridine therapy in tetrahydrobiopterin deficiency
Authors: Smith I. , Hyland K. , Kendall B. , Leeming R. 
Published: June 2005

AbstractIn most patients with deficiency of tetrahydrobiopterin (BH4) continuous administration of BH4 or of a synthetic analogue such as 6‐methyltetrahydropterin (6‐MPH4) lowers plasma phenylalanine concentrations to the therapeutic range. The effective dose of BH4 varies from 1 to 2 mg kg−1 daily in patients with defective biopterin synthesis, to 5 mg kg−1 or more in patients with dihydropteridine reductase (DHPR) deficiency. The cost of 2 mg kg−1 day−1 of BH4 is comparable to the cost of a low phenylalanine diet.Higher doses of pterins given orally (20 mg kg−1) raise the levels of tetrahydropterin in cerebrospinal fluid (CSF) to normal in patients with defective biopterin synthesis in whom initial concentration of biopterin species are low. In some, but not all, such patients pterin therapy also raises CSF amine metabolite concentrations and ameliorates symptoms. High dose therapy does not appear to be effective in raising CSF pterin levels in patients with DHPR deficiency who already accumulate dihydrobiopterin (BH2) in CSF.Central folate deficiency is an additional cause of neurological deterioration in patients with DHPR deficiency who require supplementation with folate as folinic acid. It is suggested that the accumulation of BH2 in such patients competitively interferes with folate metabolism.
Thiamine‐responsive inborn errors of metabolism
Authors: Duran M. , Wadman S. K. 
Published: June 2005

AbstractThree different inherited disorders are known in which thiamine may exert a beneficial effect: maple syrup urine disease (MSUD), lactic acidaemia and the syndrome of megaloblastic anaemia with sensorineural deafness and diabetes mellitus. The amounts of thiamine which were used for long‐term treatment varied from 20 to 2400 mg day−1. Additional treatment, such as the reduction of dietary branched chain amino acids in MSUD, could not be omitted in some cases. It has been shown that the vitamin improves the stability of the branched chain ketoacid decarboxylase, although some weeks may be needed to observe thein vivo effect of treatment. A prolonged trial with high doses of thiamine should always be given.
RFLPs of the phenylalanine hydroxylase gene in the Italian population
Authors: Dianzani I. , Farinasso L. , Fortina P. , Camaschella C. , Ponzone R. , Dahl H‐H. M. , Cotton R. G. H. , Ponzone A. 
Published: June 2005

SummaryDifferent mutations of the phenylalanine hydroxylase (PAH) gene leading to phenylketonuria (PKU) have been described associated with specific haplotypes in several European countries. In order to investigate the distribution of DNA haplotypes in Italy, restriction fragment length polymorphism (RFLP) analysis of the PAH gene was performed in nine Italian PKU patients from eight unrelated families, and in the available relatives. The analysis of eight polymorphic sites revealed haplotypes 1 and 6 in association with PKU. This pattern appears to differ from those reported for other European populations.The majority of the 14 PKU subjects studied showed compound heterozygosity for different haplotypes, as observed for other European series.RFLP analysis at the PAH locus allowed us to offer the possibility of prenatal diagnosis to six of the studied families. One prenatal diagnosis was performed and a normal fetus was diagnosed.
DNA analysis for ornithine transcarbamylase deficiency
Authors: Rozen R. , Fox J. E. , Hack A. M. , Fenton W. A. , Horwich A. L. , Rosenberg L. E. 
Published: June 2005

AbstractWe have utilized the Southern blotting technique to analyse genomic DNA from males with ornithine transcarbamylase (OTC) deficiency and their families. Using a nearly full‐length human cDNA probe, we have identified 3 patients with deletions at this locus and have characterized 4 different restriction fragment length polymorphisms that can be used as linkage markers for the OTC mutation. These polymorphisms occur at sufficiently high frequencies so as to enable us to distinguish the two X‐chromosomes in approximately 80% of OTC carriers. As a direct consequence of these findings, prenatal diagnosis and carrier assessment can be offered to a large fraction of families at risk for OTC deficiency.
Survival probability of Baltic larval cod in relation to spatial overlap patterns with their prey obtained from drift model studies
Authors: Hinrichsen H-H. , Schmidt J.O. , Petereit C. , Möllmann C. 
Published: June 2005

Abstract
Temporal mismatch between the occurrence of larvae and their prey potentially affects the spatial overlap and thus the contact rates between predator and prey. This might have important consequences for growth and survival. We performed a case study investigating the influence of circulation patterns on the overlap of Baltic cod larvae with their prey. A three-dimensional hydrodynamic model was used to analyse spatio-temporally resolved drift patterns of larval Baltic cod. A coefficient of overlap between modelled larval and idealized prey distributions indicated the probability of predator–prey overlap, dependent on the hatching time of cod larvae. By performing model runs for the years 1979–1998 investigated the intra- and interannual variability of potential spatial overlap between predator and prey. Assuming uniform prey distributions, we generally found the overlap to have decreased since the mid-1980s, but with the highest variability during the 1990s. Seasonally, predator–prey overlap on the Baltic cod spawning grounds was highest in summer and lowest at the end of the cod spawning season. Horizontally variable prey distributions generally resulted in decreased overlap coefficients. Finally, we related variations in overlap patterns to the variability of Baltic cod recruitment success.
Recent discs of Egon Wellesz
Authors: Conway Paul 
Published: June 2005

EGON WELLESZ: Vorfrühling; Leben, Traum und Tod; Lied der Welt; Sonette der Elizabeth Barrett Browning; Ode an die Musik; Vision; Symphonischer Epilog. Regina Klepper (sop), Sophie Koch (mezzo), Deutsches Symphonie-Orchester Berlin, c. Roger Epple. Capriccio 67077.WELLESZ: Symphonies Nos. 1 and 8; Symphonischer Epilog. Radio Symphonieorchester Wien, c. Gottfried Rabl. CPO 999998-2.WELLESZ: Symphonies Nos. 2 and 9. Radio Symphonieorchester Wien, c. Gottfried Rabl. CPO 999997-2.WELLESZ: Prosperos Beschwörungen; HONEGGER: Symphony No. 5; STRAVINSKY: Le Sacre du printemps; JANÁČEK: Sinfonietta; WEBERN: Passacaglia; Six Movements op. 6; BERG: Der Wein; SCHOENBERG: Pelleas und Melisande; SCHMIDT: Symphony No. 2. Vienna Philharmonic c. Haitink, Ansermet, Markevitch, Kubelik, Mehta, Dorov, Bohm, Leinsdorf. Andante AND4080.
FIVE LONDON REPORTS
Authors: Miller Malcolm , Anderson Martin 
Published: June 2005

Purcell Room: Charles HartManoukian Cultural Centre, St Yegiche's Armenian Church, Cranley Gardens: Mikhail PletnevPurcell Room: Roxanna PanufnikLeighton House and The Warehouse: Jonathan Powell, ‘Finland Piano Suomi’Leighton House: Richard Dubugnon's ‘Mikroncerto III’
The Emergence of Greater China: The Economic Integration of Mainland China, Taiwan and Hong Kong. By Yung-Wing Sung. [Basingstoke and New York: Palgrave Macmillan, 2005. xvi+236 pp. ISBN 0-333-62599-4.]
Authors: Kueh Y. Y. 
Published: June 2005

This is a highly readable book about the emerging economic complex of “Greater China.” The author, based at the Chinese University of Hong Kong, is the foremost authority on the subject matter. The book, which culminates from well over a decade of painstaking research and publication, traces the process and pattern of economic integration among the Chinese trio – the Chinese mainland, Hong Kong and Taiwan – over the past two decades or so. The analysis is set against the broader background of Chinese economic reforms and opening to the West, as well as the changing political context in East Asia that has facilitated increased economic interaction in the region.The book starts with a broad description of the economic structure and relative economic strengths of the Chinese trio, and furnishes a useful conceptual framework for understanding the evolving economic relationships. Chapter two shows how FDI (foreign direct investment) from Hong Kong and Taiwan has triggered an accelerated process of integration with the mainland, and as a result led to the drastic expansion of China's external trade. Chapter three examines the particular characteristics of economic integration between Hong Kong and the mainland on the one hand, and between the two sides of the Taiwan Strait on the other hand. It reveals how cultural (affinity) and geographical (proximity) factors have played a role, and what policy readjustments have been made in the three constituent parts of the “China circle” to bring about a “new brand of ‘new-style’ economic integration,” which is unique in the global context of trade and investment liberalization.