bluuebunny/crossref_metadata_2025 huggingface dataset:
Pre‐existing hypertension and the impact of stroke on cognitive function
Authors: Elkins Jacob S. , Yaffe Kristine , Cauley Jane A. , Fink Howard A. , Hillier Teresa A. , Johnston S. Claiborne
Published: June 2005

Hypertension has been associated with subclinical injury in the brain and may therefore increase the impact of an incident stroke on cognitive function. The Study of Osteoporotic Fractures (SOF) is a prospective, observational study of 9,704 women aged 65 years and older recruited from four U.S. metropolitan areas. Blood pressure was measured at study entry, and cognitive decline was defined by the change from prestroke to poststroke cognitive testing. During an average follow‐up of 6.8 years, incident stroke occurred in 260 participants (3.1%) who had previously completed baseline cognitive testing. Among participants with stroke, 119 completed follow‐up cognitive testing a median of 1.9 years after the stroke, 80 died before the next study visit, and 61 did not complete further cognitive testing. After adjustment for demographic factors and other confounders, pre‐existing hypertension was a strong predictor of cognitive decline when a stroke occurred (odds ratio [OR], 4.07; 95% confidence interval [CI], 1.37–12.1). In contrast, hypertension was only weakly associated with cognitive decline in the absence of stroke (OR, 1.13; 95% CI, 1.04–1.22) (p for interaction = 0.032). Pre‐existing hypertension in women is associated with a greater impact of stroke on cognitive function, possibly by influencing the ability to tolerate or recover from brain injury. Ann Neurol 2005;58:68–74
6‐Pyruvoyl‐tetrahydropterin synthase deficiency with mild hyperphenylalaninemia
Authors: Demos Michelle K. , Waters Paula J. , Vallance Hilary D. , Lillquist Yolanda , Makhseed Nawal , Hyland Keith , Blau Nenad , Connolly Mary B.
Published: June 2005

Severe 6‐pyruvoyl‐tetrahydrobiopterin synthase deficiency is a tetrahydrobiopterin deficiency disorder that presents in infancy with developmental delay, seizures, and abnormal movements associated with hyperphenylalaninemia usually detectable by neonatal phenylketonuria screening programs. We describe an 8‐year‐old girl with delay, seizures, and dystonia with mild hyperphenylalaninemia detected in late childhood. The diagnosis of 6‐pyruvoyl‐tetrahydrobiopterin synthase deficiency was made by analysis of pterins in urine, pterins and neurotransmitters in cerebrospinal fluid, and enzyme assay. The patient improved clinically taking oral tetrahydrobiopterin, levodopa/carbidopa, and 5‐hydroxytryptophan. This treatable condition may not always be detected by routine population screening for hyperphenylalaninemia. Ann Neurol 2005;58:164–167
Spatial process modelling for univariate and multivariate dynamic spatial data
Authors: Gelfand Alan E. , Banerjee Sudipto , Gamerman Dani
Published: June 2005

There is a considerable literature in spatiotemporal modelling. The approach adopted here applies to the setting where space is viewed as continuous but time is taken to be discrete. We view the data as a time series of spatial processes and work in the setting of dynamic models, achieving a class of dynamic models for such data. We seek rich, flexible, easy‐to‐specify, easy‐to‐interpret, computationally tractable specifications which allow very general mean structures and also non‐stationary association structures.

Our modelling contributions are as follows. In the case where univariate data are collected at the spatial locations, we propose the use of a spatiotemporally varying coefficient form. In the case where multivariate data are collected at the locations, we need to capture associations among measurements at a given location and time as well as dependence across space and time. We propose the use of suitable multivariate spatial process models developed through coregionalization.

We adopt a Bayesian inference framework. The resulting posterior and predictive inference enables summaries in the form of tables and maps, which help to reveal the nature of the spatiotemporal behaviour as well as the associated uncertainty. We illuminate various computational issues and then apply our models to the analysis of climate data obtained from the National Center for Atmospheric Research to analyze precipitation and temperature measurements obtained in Colorado in 1997. Copyright © 2005 John Wiley & Sons, Ltd.
A numerical method for the Landau–Lifshitz equation with magnetostriction
Authors: Baňas L'ubomír
Published: June 2005

We present a numerical scheme for Landau–Lifshitz–Gilbert equation coupled with the equation of elastodynamics. The considered physical model describes the behaviour of ferromagnetic materials when magnetomechanical coupling is taken into account. The time‐discretization is based on the backward Euler method with projection. In the numerical approximation, the two equations are decoupled by a suitable linearization in order to solve the magnetic and mechanic part separately. The resulting semi‐implicit scheme is linear and allows larger time‐steps than explicit methods. We prove stability and error estimates for the presented time discretization in 2D. Finally, we test the accuracy of the scheme on an academic numerical example with known exact solution. Copyright © 2005 John Wiley & Sons, Ltd.
Strain localization in soft rock—a typical rate‐dependent solid: experimental and numerical studies
Authors: Bhandari A. R. , Inoue J.
Published: June 2005

Strain localization developing inside soft rock specimens is examined through experimental observation and numerical simulation. In the experimental study, soft rock specimens are sheared at different strain rates under plane strain conditions and deformation and strain localization characteristics are analysed. Transition of localization mode from highly localized mode for higher strain rate to distributed and diffused mode of strain localization for lower strain rates was observed. In the numerical study, simulations of plane strain compression tests are carried out at different strain rates by using an overstressed‐type elasto‐viscoplastic model in finite element computations. The role of strain rates on setting gradients of strain fields across shear band is clarified. The probable mechanism for transition of localization mode is discussed. Copyright © 2005 John Wiley & Sons, Ltd.
Molecular structure and thickness dependence of chain orientation in aromatic polyimide films
Authors: Terui Yoshiharu , Matsuda Sho‐Ichi , Ando Shinji
Published: June 2005

Degrees of orientation of main chains and imide rings were quantitatively estimated for spin‐coated films of six kinds of aromatic polyimides (PIs) using polarized attenuated total reflection (ATR)/Fourier transform infrared (FT‐IR) spectroscopy. The degrees of chain orientation parallel to the film planes are significantly larger for the PIs having rigid structures than those having flexible structures, and the introduction of side groups decrease the degrees of chain orientation. In contrast, the rotational orientations of imide rings are almost isotropic for all PI films. Moreover, the film thickness dependences of the degrees of orientation were investigated for two kinds of rigid‐rod PIs having bulky trifluoromethyl (CF3) side groups in their diamine moieties. The degrees of chain orientation slightly decrease as the film thickness increases, whereas the rotational orientation of imide rings is independent of the film thickness. The degrees of chain orientation on the substrate sides significantly differ from the atmospheric sides of PI films. This difference was generated during thermal imidization because of tensile stress originated from the mismatch in thermal expansion coefficients between the substrates and the PI films. © 2005 Wiley Periodicals, Inc. J Polym Sci Part B: Polym Phys 43: 2109–2120, 2005
Abnormal cholesterol biosynthesis in sitosterolaemia and the Smith‐Lemli‐Opitz syndrome
Authors: Salen G. , Shefer S. , Batta A. K. , Tint G. S. , Xu G. , Honda A.
Published: June 2005

We investigated the enzyme defects in two inherited disorders of cholesterol biosynthesis: sitosterolaemia and the Smith‐Lemli‐Opitz syndrome. In sitosterolaemic homozygotes, plasma plant sterols (sitosterol and campesterol) concentrations are elevated because of enhanced intestinal absorption and diminished removal. Underlying these changes is very low cholesterol biosynthesis to provide extra sterol for cell growth. Extremely reduced activities of HMG‐CoA reductase, the rate‐controlling enzyme for cholesterol biosynthesis, caused by deficient HMG‐CoA reductase mRNA is responsible and is the suspected inherited abnormality. The Smith‐Lemli‐Opitz syndrome is caused by a block in the last reaction in the cholesterol biosynthetic pathway, the conversion of 7‐dehydrocholesterol to cholesterol, which is catalysed by 7‐dehydrocholesterol Δ7‐reductase. As a result, low plasma and tissue cholesterol with high 7‐dehydrocholesterol levels are found in homozygotes, who show characteristic phenotypes of mental retardation, facial dysmorphism, and organ and limb congenital anomalies. Similar biochemical findings are produced in rats fed BM 15,766, an inhibitor of 7‐dehydrocholesterol Δ7‐reductase. Interestingly, feeding cholesterol can suppress abnormal cholesterol biosynthesis and improve symptoms in homozygotes and rats fed BM 15,766.
Regulation and function of the mitochondrial genome
Authors: Jeong‐Yu S. , Clayton D. A.
Published: June 2005

Molecular changes in human mitochondrial DNA play a significant role in causing certain human diseases. Mitochondrial DNA mutations range from single base pair changes in the 16.5 kilobase pair genome up to large deletions and rearrangements. This report summarizes the current overall understanding of the mode and mechanism of mitochondrial DNA replication and transcription, and how this relates to mitochondrial gene expression, which is essential for cellular energy production and organelle biogenesis. Special attention is given to recent findings that bear on early steps in the process of transcription and, in turn, the consequences for initiating DNA replication
Genetic counselling and prenatal diagnosis in disorders of the mitochondrial energy metabolism
Authors: Ruitenbeek W. , Wendel U. , Hamel B. C. J. , Trijbels J. M. F.
Published: June 2005

Point mutations in mitochondrial DNA, as found in MELAS, MERRF, NARP and other syndromes, are inherited via the maternal lineage. Genetic counselling can be beneficial, but prenatal diagnosis is not advantageous in these syndromes. Empirical data about the recurrence risk can be applied in Leber disease (LHON). Mitochondrial disorders not associated with a point mutation have a sporadic nature (large deletions/duplications in mitochondrial DNA) or are transmitted according to Mendelian laws. Autosomal dominant inheritance is likely to be found in disorders with depletion of mitochondrial DNA. X‐linked mode of inheritance is seen in Menkes disease, Barth syndrome, and in deficiencies of the E1α subunit of the pyruvate dehydrogenase complex. Mutation analysis or linkage studies can be applied for carrier detection and prenatal diagnosis in these three types of mitochondriopathies. The majority of the disorders with a disturbed mitochondrial energy metabolism are likely inherited in an autosomal recessive mode. Prenatal diagnosis can be performed in the cases of cytochromec oxidase and NADH dehydrogenase deficiencies in chorionic villi in selected families.
Pyruvate carboxylase deficiencies: Complementation studies between “French” and “American” phenotypes in cultured fibroblasts
Authors: Augereau C. , Pham Dinh D. , Moncion A. , Marsac C. , Saudubray J. M. , Robinson B. H.
Published: June 2005

Pyruvate carboxylase (PC) deficiencies (McKusick 26615) are heterogeneous clinically and biochemically. We performed a complementation study with fibroblast strains from seven patients, (four patients with “French” phenotype, two patients with “American” phenotype, one patient with biotin responsive multiple carboxylase deficiency, MCD). The six isolated pyruvate carboxylase mutants (two cross‐reacting material CRM −ve and four CRM +ve) failed to complement each other, but did complement a form of biotin responsive MCD.
Biochemical nature of pyruvate dehydrogenase complex in the patient with primary lactic acidaemia
Authors: Kitano A. , Endo F. , Kuroda Y. , Aso S. , Kawasaki T. , Matsuda I.
Published: June 2005

The biochemical nature of the pyruvate dehydrogenase complex (PDHC) in muscle was studied in a patient with pyruvate dehydrogenase complex deficiency. The enzyme activity was approximately 30% of the control level and the apparentKm value of the enzyme was similar to the control value. The immunoblot pattern of each subunit protein, E1α, E1β, the component X, E2 and E3, was comparable to that of the control on both one‐and two‐dimensional electrophoresis, the staining of each subunit protein being reduced in intensity, corresponding to the reduced enzyme activity. The enzyme deficiency is likely to be quantitative rather than qualitative, although the actual mechanism is unknown.
Deficient oxidation of trihydroxycoprostanic acid in liver homogenates from patients with peroxisomal diseases
Authors: Casteels M. , Van Roermund C. W. T. , Schepers L. , Govaert L. , Eyssen H. J. , Mannaerts G. P. , Wanders R. J. A.
Published: June 2005

The activation of palmitate and trihydroxycoprostanic acid and the peroxisomal oxidation of palmitate, trihydroxycoprostanic acid and their CoA esters were measured in homogenates prepared from fresh liver tissue of patients undergoing hepatic surgery and from frozen postmortem liver specimens of controls, patients with Zellweger syndrome and a patient with pseudo‐Zellweger syndrome, a deficiency of peroxisomal 3‐oxoacyl‐CoA thiolase. In contrast to the findings in control livers, peroxisomal β‐oxidation of palmitate and of palmitoyl‐CoA was severely impaired, and oxidation of trihydroxycoprostanic acid and its CoA ester could not be detected in the livers of the patients affected by peroxisomal diseases. The finding in this paper, that the oxidation of trihydroxycoprostanoyl‐CoA can be measured reliably in small amounts of human liver, will be of valuable help in the differential diagnosis and classification of peroxisomal disorders and will help to elucidate the exact nature of some of the defects present in these disorders.
Streptozotocin‐induced diabetes is not a model for methylmalonic acidaemia
Authors: Bailey L. B. , Molloy A. , Scott J. , Rice D.
Published: June 2005

The streptozotocin‐treated diabetic rat was not found to be a suitable animal model for methylmalonic acidaemia as previously described. Urinary methylmalonic acid (MMA) was measured in adult Wistar rats prior to and following injection of streptozotocin (40 mg/kg). Plasma and tissue MMA levels were measured following the induction of diabetes and compared with data from control rats. MMA levels were determined by a gas chromatographic‐mass spectrometric method (McMurrayet al., 1986). Diabetes was confirmed by the 10 × increase in 24h urine volume; glycosuria; glycaemia; and weight loss. Urinary MMA excreted did not change during the 11 week diabetic period and there was no difference between the pre‐ and post‐diabetic phases (p<0.05). Plasma and tissue MMA concentrations were not elevated in this diabetic animal model. Also in contrast to earlier reports, the vitamin B12 levels of the diabetic rats were not elevated compared to controls (p<0.05).
Uridine nucleotide sugars in erythrocytes of patients with galactokinase deficiency
Authors: Xu Y. ‐K. , Ng W. G. , Kaufman F. R. , Donnell G. N.
Published: June 2005

The levels of UDPglucose and UDPgalactose (UDPGal) have been measured in erythrocytes of seven patients with galactokinase deficiency. Normal levels of UDPGal were found in all patients with galactokinase deficiency (McKusick 23020). This is in contrast with reduced values of UDPGal found in patients with classical galactosaemia who have complete absence of galactose‐1‐phosphate uridyl transferase activity. It was demonstrated that patients with galactokinase deficiency had an incomplete enzyme block in erythrocytes by direct enzyme assay, by14CO2 production from [1‐14C]galactose, and by the appearance of labelled intermediates, notably galactose‐1‐phosphate and UDPhexose.
The management of breast feeding among infants with phenylketonuria
Authors: McCabe L. , Ernest A. E. , Neifert M. R. , Yannicelli S. , Nord A. M. , Garry P. J. , McCabe E. R. B.
Published: June 2005

Treatment for phenylketonuria (PKU) involves using low phenylalanine or phenylalanine‐free formulas and supplementation with sufficient phenylalanine for normal growth and development. Eighteen infants with phenylketonuria who received breast milk as their primary phenylalanine source were compared with ten other infants with PKU who received their phenylalanine primarily from infant formulas. There were no significant differences between breast‐fed and formula‐fed infants for serum phenylalanine, serum tyrosine, length, weight, head circumference, haematocrit, haemoglobin, serum iron, total iron binding capacity, percentage iron saturation, ferritin, plasma zinc and total calorie intake. Breast‐fed infants did show lower mean corpuscular volume at 3 months and 6 months of age. Breast‐fed infants had lower phenylalanine intake at 2, 4, 5 and 6 months of age. Breast‐fed infants at 1, 2, 3, 4, 5 and 6 months of age had lower protein intake. Breast feeding may be continued in the newly diagnosed phenylketonuric infant without any apparent adverse nutritional consequences.
Renal failure in adult patients with hereditary tyrosinaemia type I
Authors: Kvittingen E. A. , Talseth T. , Halvorsen S. , Jakobs C. , Hovig T. , Flatmark A.
Published: June 2005

An adult patient with hereditary tyrosinaemia type I who developed renal failure is reported. She received a renal transplant at the age of 23 years. In childhood her kidney disease was dominated by multiple tubular defects with resulting hypophosphataemic rickets. Metabolic acidosis was the most prominent feature in the years preceding the transplantation. Her kidneys were contracted to 40 g. The major morphological finding was that of a tubulointerstitial nephropathy. Liver biopsies taken at the ages of 5.5 and 23 years showed cirrhotic changes. Crystalloid inclusions in the liver mitochondriae were a prominent finding on electron microscopy. Fumarylacetoacetase was deficient in liver, kidneys, fibroblasts and lymphocytes. The typical biochemical parameters of tyrosinaemia, succinylacetone,p‐hydroxyphenyllactate,p‐hydroxyphenylpyruvate and serum tyrosine were only slightly elevated. A brief history of a second adult tyrosinaemia patient with decreasing renal function is also given.
Presence in human cells and tissues of two prolidases and their alteration in prolidase deficiency
Authors: Butterworth J. , Priestman D. A.
Published: June 2005

Two forms of prolidase can be separated for all the human cells and tissues examined by DEAE‐cellulose column chromatography or batch methods. Serum had a very low prolidase activity eluting as a single peak prior to tissue peak I prolidase. Analysis of the two peaks can readily be carried out using white blood cells, cultured skin fibroblasts and amniotic fluid cells. Dialysis inactivated peak II prolidase although the loss can be prevented by the presence of dithiothreitol. The two peaks differed in their response to Mn2+, substrate specificity, heat stability and inhibition byp‐hydroxymercuribenzoate. In two unrelated cases of prolidase deficiency, fibroblast peak I was markedly reduced, although still detectable, whereas peak II was active against all the substrates, except for a 90% reduction against glycyl‐l‐proline. The properties of peak II were altered in the disease. The results imply that the two forms of prolidase are structurally related.
Disturbed metabolism of copper and zinc in aspartylglycosaminuria: Possible involvement with connective tissue changes
Authors: Näntö‐Salonen K. , Halme T. , Penttinen R. , Langevelde F. V. , Vis R. D. , Alfthan G.
Published: June 2005

In aspartylglycosaminuria (AGU), a lysosomal storage disorder of glycoprotein degradation, there are some abnormalities in collagen and proteoglycan metabolism. Because of earlier observations suggesting a disturbance of copper balance, the metabolism of copper and zinc was studied in more detail to find out if possible trace metal disturbances could be correlated with connective tissue disorder. Highly elevated copper concentrations in the hair and significantly reduced zinc levels in serum and urine were detected in AGU patients indicating a disturbance of trace element balance. However, the patients had normal serum copper levels, and the concentrations of zinc and copper in cultured fibroblasts did not differ from those of control cells. Normal lysyl oxidase activities in cell culture indicate that collagen cross‐link formation is not affected. The changes in copper and zinc balance are probably secondary to the basic enzyme deficiency, and may contribute to the development of the clinical signs and symptoms of AGU although the mechanisms involved are not yet understood.
Identification of 3α,7α,12α‐trihydroxy‐5β‐cholestan‐26‐oic acid, an intermediate in cholic acid synthesis, in the plasma of patients with infantile Refsum's disease
Authors: Poulos A. , Whiting M. J.
Published: June 2005

The plasma bile acid profiles of three children with the inherited metabolic disorder, infantile Refsum's disease, were found to contain 3α,7α,12α‐trihydroxy‐5β‐cholestan‐26‐oic acid. This intermediate in the synthesis of cholic acid was identified by combined gas‐liquid chromatography‐mass spectrometry and accounted for approximately 25% of the total bile acids which were present at elevated concentrations in plasma. Infantile Refsum's disease appears to share several biochemical features with the cerebro‐hepato‐renal syndrome (Zellweger's disease), including abnormal bile acid metabolism.
Comparative pathology of the canine model of glycogen storage disease type II (Pompe's disease)
Authors: Walvoort H. C. , Dormans J. A. M. A. , van den Ingh T. S. G. A. M.
Published: June 2005

The pathology of canine glycogen storage disease type II (acid α‐glucosidase deficiency, GSD II) was studied in three genetically related Lapland dogs and compared to the pathology of human GSD II (McKusick 23230). Canine GSD II closely parallels the infantile form of the human disease, except for the presence of oesophageal dilatation. Generalized glycogen storage particularly affected muscular tissues (skeletal, oesophageal, cardiac and smooth muscle). The altered cells showed glycogen accumulation in the cytosol and in autophagic membrane‐bound vacuoles (glycogenosomes). They also showed increased acid phosphatase activity consistent with the lysosomal nature of this storage disorder. The cytopathology in canine and human GSD II appears to evolve from segregation of glycogen during regular cellular autophagy, phagolysosomal accumulation of the undigested glycogen, and eventually rupture of distended glycogenosomes. This study indicates that the usefulness of canine GSD II as an animal model of human disease, extends to the area of pathogenesis.
Methylcitrate in maternal urine during a pregnancy with a fetus affected with propionic acidaemia
Authors: Aramaki S. , Lehotay D. , Nyhan W. L. , MacLeod P. M. , Sweetman L.
Published: June 2005

Patients homozygous for propionic acidaemia have high levels of methylcitric acid in urine while heterozygotes have normal levels. Methylcitric acid was determined by stable isotope dilution gas chromatography‐mass spectrometry in maternal urine during a pregnancy with a fetus affected with propionic acidaemia. Although the levels increased linearly between 23 and 39 weeks of gestation, the levels were not significantly elevated above normal until after 30 weeks of gestation. Thus, determination of methylcitric acid in maternal urine is not of value for early prenatal diagnosis of propionic acidaemia.
Persistent hyperkalaemia in vitamin B12 unresponsive methylmalonic acidaemia
Authors: Morita J. , Ito Y. , Yoshino M. , Koga Y. , Yano S. , Yoshida I. , Yamashita F.
Published: June 2005

Persistent hyperkalaemia was found in a patient with vitamin B12 unresponsive methylmalonic acidaemia associated with hyperuricaemia. At 3 years and 8 months of age, a serum potassium level of 6.8 mmol L−1 was found when blood gas measurement was normal. One year later azotaemia was noted. At the age of 5 years, renal function studies disclosed hyperaldosteronism, decreased creatinine clearance, reduction of the reabsorption of sodium at distal diluting segments and inadequate concentration of urine at the collecting ducts. The reduction of the reabsorption of sodium, which may have resulted in decreased potassium excretion, and the decrease in glomerular filtration rate, together with the superimposed excess intake of potassium, appeared to be responsible for the hyperkalaemia. Dietary potassium restriction was effective in suppressing the hyperkalaemia.
Mild variant of argininosuccinic aciduria
Authors: Schutgens R. B. H. , Beemer F. A. , Tegelaers W. H. H. , de Groot W. P.
Published: June 2005

A 7 1/2‐year‐old boy with a massive excretion of argininosuccinic acid is described. He exhibited only moderate mental retardation, cerebellar ataxia and both abnormal hair and skin. Argininosuccinate lyase activity in the erythrocytes of his parents and his sister was in the range expected for heterozygotes. The patient was put on a low protein diet with arginine supplementation and improved clinically and biochemically on this regime. The variability of the phenotypic expression of argininosuccinate lyase deficiency is stressed.
Metabolism of glycine in the normal individual and in patients with non‐ketotic hyperglycinaemia
Authors: Nyhan W. L.
Published: June 2005

The metabolism of glycine is characterized largely by synthetic reactions. Even the catabolism of glycine appears to foster synthetic reactions because its cleavage leads to the formation of a one‐carbon tetrahydrofolate compound which can serve in a variety of synthetic pathways. In non‐ketotic hyperglycinaemia the activity of the glycine cleavage reaction is defective. This has been demonstratedin vivo andin vitro using liver and brain.
Ultrastructural changes in fibroblast mitochondria of a patient with HHH‐syndrome
Authors: Metoki K. , Hommes F. A. , Dyken P. , Kelloes C. , Trefz J.
Published: June 2005

Electron micrographs of fibroblasts of an HHH‐syndrome patient showed abnormal structures, similar, but not identical, to those observed in the liver of such patients. It is suggested that incorporation of a mutated protein into the inner mitochondrial membrane gives rise to a rearrangement of that membrane, resulting in unusual structures.
β‐Mannosidase in human leukocytes and fibroblasts
Authors: Panday R. S. , van Diggelen O. P. , Kleijer W. J. , Niermeijer M. F.
Published: June 2005

In human leukocytes and fibroblasts β‐mannosidase activity has a unimodal pH optimum (4.0–4.5). Markedly reduced activity is found in I‐cell disease. Normal activities in human fibroblasts are ten times higher than in the goat, in which species a deficiency disease has been described.
The effect of treatment on zinc, copper and calcium status in children with phenylketonuria
Authors: Taylor C. J. , Moore G. , Davidson D. C.
Published: June 2005

The trace element status of 25 children receiving a low phenylalanine diet for a treatment of phenylketonuria was studied using hair and serum samples. Hair trace element and calcium concentrations were assayed using X‐ray microanalysis and compared with samples from sibling controls. Plasma, zinc and copper levels were compared with unselected hospital attenders. PKU patients were found to have significantly lower hair zinc (P<0.001) and calcium (P<0.01) concentrations and significantly higher hair copper (P<0.001) concentrations compared with controls. Plasma zinc levels were below the lower limit of normal (9.6µmol l−1) in 8 of 19 patients (42%) in whom it was measured. The relative zinc deficiency in PKU patients may result from a competitive inhibition of absorption by copper or other metals supplemented in the diet.
Copper utilization in cultured skin fibroblasts of the mottled mouse, an animal model for Menkes' kinky hair syndrome
Authors: Packman S. , Chin P. , O'Toole C.
Published: June 2005

An animal model for Menkes' kinky hair syndrome is provided by mice mutant at the X‐linked mottled locus. Two mechanisms have been invoked to explain disease manifestations in mottled and in kinky hair syndrome: (i) relative tissue copper deficiencies and corresponding reductions in cuproenzyme activities; or (ii) defective intracellular copper utilization, with impaired intracellular translocation to cuproenzymes or to copper‐dependent processes. We addressed the second possibility through measurements of soluble superoxide dismutase (SOD‐1) in cytosol extracts of confluent mottled (blotchy) cultured skin fibroblasts. At comparable intracellular copper concentrations over a broad range, SOD‐1 specific activities in the mutant cells were not distinguishable from those in controls, or, in some instances, were actually higher. These data suggest that the excess copper anomalously sequestered in a cell expressing the mutation remains available for binding to a cytosolic cuproenzyme. When taken together with data in other systems, the results are consistent with the thesis that the basic lesion in blotchy may primarily affect copper transport or delivery to specific copper transport systems.
Tay‐sachs disease heterozygote detection in Brazil: Comparison between tears and leukocytes as β‐hexosaminidase a source
Authors: Buchalter M. S. , Wannmacher C. M. D. , Wajner M.
Published: June 2005

Hexosaminidase A activities were determined in tears and peripheral leukocytes of carriers and noncarriers for Tay‐Sachs Disease (TSD) as a percentage of total hexosaminidase activity. Correlation between enzyme activities in tears and leukocytes was highly significant (r=0.75,p<0.01). Compared to leukocytes, screening in tears revealed 100% sensitivity, 100% negative predictive value, 86% specificity and 80% positive predictive value. These results indicate that tears are a satisfactory material for mass‐screening of TSD‐carrier state, but positive results must be confirmed in peripheral leukocytes.

Seven heterozygotes were detected among 298 young Ashkenazi Jewish volunteers screened, giving an adjusted frequency of the TSD gene of 0.024.
Multiple sulphatase deficiency in homozygotic twins
Authors: Nevšímalová S. , Elleder M. , Šmíd F. , Zemánková M.
Published: June 2005

Multiple sulphatase deficiency was studied in 3 siblings — one pair of monozygotic twins and their sister. The children's psychomotor development was arrested at the age of 18 to 24 months, and the hypotonic syndrome combined with signs of spasticity appeared. There was marked hepatosplenomegaly, conspicuously dry scaly skin with the decortication syndrome developing and persisting in the presence of pronounced cachexia. Also present were numerous X‐ray abnormalities, metachromatically staining granules in the urine, and Alder‐Reilly's bodies in the blood leukocytes and in specimens of bone marrow. Liver, skin and muscle biopsies performed simultaneously revealed accumulations of water‐soluble mucopolysaccharides and deposits of sulphatides in the two twins. Enzyme assays demonstrated arylsulphatase A and B deficiency. The diagnosis was subsequently confirmed at all the three siblings' postmortem examinations.
Biochemical and clinical changes in Wilson's disease heterozygotes
Authors: Mareček Z. , Nevšímalová S.
Published: June 2005

This paper reports on a study of the heterozygous children of patients with Wilson's disease. A total of 16 children of 10 patients with the disease were followed up. Detailed biochemical, clinical and EEG tests were done. Nearly all the children were found to have reduced serum copper and caeruloplasmin levels and high rates of urine copper excretion following exposure to penicillamine. These findings were different from the results obtained in adult heterozygous carriers. Thirty per cent of the children had pathological neurological findings, and EEG abnormalities were found in 75%.
Observations indicating the nature of the mutation in phenylketonuria
Authors: Choo K. H. , Cotton R. G. H. , Jennings I. G. , Danks D. M.
Published: June 2005

Rabbit antiserum was prepared against purified normal human liver phenylalanine hydroxylase. This was used to test for cross‐reacting material in crude extracts of livers from patients with classical phenylketonuria (PKU); the samples from patients were two livers obtained at autopsy and a needle biopsy core. None of these enzymically inactive livers contained detectable cross‐reacting material capable of neutralizing antibody activity in double immunodiffusion and/or enzyme inhibition experiments. In an earlier study, no phenylalanine hydroxylase was found in the two autopsy PKU livers by an affinity chromatography method or by the use of a specific antiserum raised against purified monkey liver phenylalanine hydroxylase (Chooet al., 1979a). This evidence suggests that mutations in the PKU patients studied may be regulatory in nature.
Trimethylaminuria
Authors: Spellacy Elizabeth , Watts R. W. E. , Goolamali S. K.
Published: June 2005

We describe the case of an otherwise healthy 7‐year‐old girl whose mother noticed that she intermittently smelt of fish. This was due to the intermittent excretion of trimethylamine which could be precipitated by choline ingestion and by eating fish. Excluding eggs, liver and salt‐water fish from the diet relieved the symptom. After a standard 15g choline load, the child's father, but not her mother, excreted amounts of trimethylamine which were intermediate between those excreted by the patient and normal control subjects.
α‐aminoadipic aciduria: Chemical and enzymatic studies
Authors: Gray R. G. F. , O'Neill E. M. , Pollitt R. J.
Published: June 2005

A new case of α‐aminoadipic aciduria had an apparent immunodeficiency and died at the age of 4 months. The urine contained large amounts of α‐aminoadipate and smaller quantities of α‐keto‐ and α‐hydroxyadipate.Post mortem, the highest concentrations of α‐aminoadipate were found in liver and kidney. Enzymatic studies on liver and cultured fibroblasts failed to demonstrate the expected deficiency of α‐aminoadipate aminotransferase, a result perhaps explicable by the presence of cytoplasmic aminotransferase activity.
The use of natural and artificial substrates in the prenatal diagnosis of Krabbe's disease
Authors: Besley G. T. N.
Published: June 2005

Krabbe's disease was diagnosed prenatally using cultured amniotic fluid cells and the diagnosis confirmed using fetal brain, liver and cultured fetal skin fibroblasts. The enzyme defect was demonstrated by assay of galactocerebrosidase and lactocerebrosidase I, and by hydrolysis of the chromogenic analogue, 2‐hexadecanoylamino‐4‐nitrophenyl‐β‐D‐galactopyranoside. The relative merits of the three diagnostic methods are discussed.
Threonine dehydratase deficiency: A probable cause of non‐ketotic hyperglycinaemia
Authors: Krieger I. , Booth F.
Published: June 2005

A patient with classical symptoms of non‐ketotic hyperglycinaemia (NKH) is presented. Threonine dehydratase was undetectable in a liver autopsy specimen, which was obtained within 1 h of death and immediately frozen at −70 °C. Activities of four marker enzymes were normal. This represents the first documentation of an inborn error of threonine metabolism and a new explanation of NKH.
Analytical procedures for diagnosis of trace element disorders
Authors: Fell G. S.
Published: June 2005

Trace element levels in tissues show changes in various diseases including inborn errors of metabolism. Such changes may be primary or secondary due to stress or diseases of the liver and gastrointestinal tract. Measurement of trace elements in these cases may be essential both for diagnostic and therapeutic purposes. Trace element measurements can also be useful in other areas of clinical interest including nutrition, toxicity and therapy with inorganic pharmaceutical agents. The available techniques for measuring trace elements in tissues are summarized and the various problems of each are discussed.
A role for zinc in gene expression
Authors: Vallee B. L.
Published: June 2005

Zinc deficiency inEuglena gracilis has been shown to affect growth, morphology, cell cycle and mitosis. These observations are best explained by a role for zinc in gene regulation possibly through zinc dependent enzymes. A similar role for zinc in man may exist with genetic and medical implications.
High‐performance liquid chromatographic assay of argininosuccinate: its application in argininosuccinic aciduria and in normal man
Authors: Portolés M. , Rubio V.
Published: June 2005

Argininosuccinate (ASA) is determined in a few minutes with little manipulation by reversed phase high‐performance liquid chromatography (HPLC) usingO‐phthaldialdehyde. The two cyclic anhydrides of ASA are not formed during analysis but, if present, can be determined simultaneously. As little as 1 nl urine from a patient with argininosuccinic aciduria was sufficient for analysis; the ASA/creatinine ratio was 50.8 mmol g−1 and daily excretion was 5–7g ASA. We found small amounts of the two anhydrides in the patient's urine and we give factors to estimate, from their peaks, the corresponding amount of ASA. Urine from normal children showed a small acid‐labile (at 100°C) peak at the ASA position, which we tentatively assign to genuine ASA. From this peak <2mg ASAday−1 were excreted in our controls. Procedures for collection and storage of samples and the potential of this method for heterozygote detection are discussed.
Accumulation of [3H]Sialyl‐conjugates in sialidosis (sialidase‐deficient) fibroblasts cultured in the presence of [3H]‐N‐acetylmannosamine
Authors: Scocca J. , Thomas G. H. , Reynolds L. , Miller C. S.
Published: June 2005

Skin fibroblasts from normal individuals and a patient with the infantile form of sialidosis were cultured for up to 72h in medium containing [3H]‐N‐acetylmannosamine. The sialidosis fibroblasts consistently accumulated more labeled compound(s) than the control cells, i.e. 37–88% more cpm per mg protein. Precipitation of sonicates of these cells with 10% trichloracetic acid, TCA, demonstrated that the excess radioactivity in the sialidosis fibroblasts was in one or more TCA soluble compounds. There was no detectable difference in the amount of label in the TCA insoluble material.

The TCA soluble, labeled, material from the sialidosis and the control fibroblasts was separated, isolated and purified on AG1‐X8, QAE Sephadex A‐25 and Bio‐Gel P‐4 chromatography columns. Analysis of the isolated material showed the excess radioactivity in the sialidosis fibroblasts to be due to increased levels of [3H]sialic acid covalently bound to a variety of anionic sialyl conjugates. These compounds have been separated and partially purified.

Finally, acid hydrolysis and chromatographic analysis of the TCA insoluble fractions showed that greater than 80% of the label in this material was also due to [3H]sialic acid. There was no detectable difference between the control and the sialidosis patient in the amount of label in this fraction.
A method for enrichment of hybrid somatic cells: Complementation studies in certain lysosomal enzymopathies
Authors: Nelson P. V. , Carey W. F.
Published: June 2005

An improved method, which combines a number of published techniques, is described for the polyethyleneglycol‐induced fusion of mononuclear human skin fibroblasts in the presence of phytohaemagglutinin‐P and for the subsequent isolation of polynuclear cells by Ficoll gradient sedimentation. Enriched cultures contain between 60 and 75% multinucleated cells and may be maintained in culture without fetal calf serum for up to 14 days without significant overgrowth by the few contaminating mononuclear parental cells. Complementation appears not to occur between GM1 gangliosidosis and mucopolysaccharidosis, type VIB (Morquio) cell strains; this experimental observation provides support for the earlier hypothesis that the mutations for these conditions are allelic. Earlier observations that complementation does not occur between selected phenotypic variants (viz., neuronopathic forms and those without neurological involvement) of sphingomyelin storage (Niemann‐Pick) disease or Gaucher's disease are confirmed.
Transient hyperphenylalaninaemia with a high neopterin to biopterin ratio in urine
Authors: Takahashi T. , Kodama S. , Nishio H. , Takumi T. , Matsuo T. , Hase Y. , Sawada Y.
Published: June 2005

A case of transient hyperphenylalaninaemia with a maturational delay of dihydropteridine synthesis is described. With the Guthrie test, the patient showed a blood phenylalanine level of 38 mg dl−1, which had fallen to a normal value without a phenylalanine restricted diet by 3 months of age. The neopterin level and the neopterin to biopterin ratio in the patient's urine were very high at 19 days of age. The blood phenylalanine level did not decrease when tetrahydrobiopterin (2.5 mg kg−1) was administered at 19 days of age, while administration of tetrahydrobiopterin (7.5 mg kg−1) at 20 days of age had decreased the blood phenylalanine level to 50% of the preloading level after 24 h. The oral phenylalanine loading test showed the pattern of classic phenylketonuria (PKU) at 15 days of age, but it showed the normal pattern at 1 year 8 months of age.
The Evolving Role of Endoscopic Treatment for Bleeding Esophageal Varices
Authors: Krige J. E. J. , Shaw J. M. , Bornman P. C.
Published: June 2005

The treatment of acute and recurrent variceal bleeding is best accomplished by a skilled, knowledgeable, and well‐equipped team using a multidisciplinary integrated approach. Optimal management should provide the full spectrum of treatment options including pharmacologic therapy, endoscopic treatment, interventional radiologic procedures, surgical shunts, and liver transplantation. Endoscopic therapy with either band ligation or injection sclerotherapy is an integral component of the management of acute variceal bleeding and of the long‐term treatment of patients after a variceal bleed. Variceal eradication with endoscopic ligation requires fewer endoscopic treatment sessions and causes substantially less esophageal complications than does injection sclerotherapy. Although the incidence of early gastrointestinal rebleeding is reduced by endoscopic ligation in most studies, there is no overall survival benefit relative to injection sclerotherapy. Simultaneous combined ligation and sclerotherapy confers no advantage over ligation alone. A sequential staged approach with initial endoscopic ligation followed by sclerotherapy when varices are small may prove to be the optimal method of reducing variceal recurrence. Overall, current data demonstrate clear advantages for using ligation in preference to sclerotherapy. Ligation should therefore be considered the endoscopic treatment of choice in the treatment of esophageal varices.
Superselection Sectors, Pure States, Bose and Fermi Distributions by Completely Positive Quantum-Motions
Authors: Dietz Klaus
Published: June 2005

The connection of the operators V, building up the Kossakowski-Lindblad generator, with the asymptotic states of the corresponding completely positive quantum-maps is discussed. Maps leading to decoherence are constructed, the importance of zero-modes in the absolute value [Formula: see text] of V for the generation of pure states from arbitrary mixed states is illustrated. The universal rôle of equipartite states appears when unitary V are chosen. The 'damped oscillator model' is generalized to yield Bose and Fermi distributions as asymptotic states for systems described by a Hamiltonian and other constants of motion. Calculations are performed in finite dimensional Hilbert spaces.
A Randomized Controlled Trial of the Effects of Applied Relaxation Training on Reducing Anxiety and Perceived Stress in Pregnant Women
Authors: Bastani Farideh , Hidarnia Alireza , Kazemnejad Anoshirvan , Vafaei Maryam , Kashanian Maryam
Published: June 2005

The purpose of this study was to investigate the effect of applied relaxation training on reducing anxiety and perceived stress among pregnant women. A randomized controlled trial with a prospective pretest‐posttest experimental design was used. One hundred ten primigravid women (mean age = 23.8 years) in their second trimester (mean of gestational age = 17.8 weeks) were randomly assigned into experimental and control groups. The experimental group received routine prenatal care with applied relaxation training, and the control group received only routine prenatal care. State/trait anxiety was measured with the Spielberger State‐Trait Anxiety Inventory, and perceived stress was measured with the Cohen Perceived Stress Scale. There were significant reductions in state/trait anxiety and perceived stress for the experimental group compared with the control group after the intervention. The findings suggest beneficial effects of relaxation on reducing anxiety and perceived stress in pregnant women. Teaching relaxation techniques could serve as a resource for improving maternal psychological health.
Implementing a Facility‐Based Maternal and Perinatal Health Care Surveillance System in Afghanistan
Authors: Dott Mary M. , Orakail Nasreen , Ebadi Hameeda , Hernandez Filiberto , MacFarlane Kitty , Riley Patricia L. , Prepas Roberta , McCarthy Brian J.
Published: June 2005

Afghanistan has one of the highest maternal and perinatal mortality rates in the world. Lack of a health information system presented obstacles to efforts to improve the quality of care and reduce mortality. To rapidly overcome this deficit in a large women's hospital, staff implemented a facility‐based maternal and perinatal surveillance system known as “BABIES,” which is specially designed for intervention and evaluation in low‐resource settings. During a 12‐month period, 15,509 deliveries resulted in 28 maternal deaths and a perinatal mortality rate of 56 per 1000 births. When stratified by birth weight and perinatal period of death, fetuses weighing at least 2500 g who died during the antepartum period contributed the most cases of perinatal death. This finding suggests that the greatest reduction in perinatal mortality would be realized by increasing access to high‐quality antepartum care. Among fetuses weighing at least 2500 g, 93 deaths occurred during the intrapartum period. These deaths will continue to be monitored to ensure that the chosen interventions are improving intrapartum care for mothers and newborns. Because of its simplicity, flexibility, and ability to identify interventions, BABIES is a valuable tool that enables clinicians and program managers to prioritize resources.
Latent Tuberculosis Infection and BCG Vaccination
Authors: Ross Lisa , Goff Meredith
Published: June 2005

One third of the world's population is infected with Mycobacterium tuberculosis, and 5% to 10% of those infected will develop active disease. Identification and treatment of latent tuberculosis infection (LTBI) is an essential part of the public health strategy to control the spread of TB. The prenatal period provides an opportunity for obstetric providers to assist in this effort by offering testing and treatment to women at risk. J Midwifery Womens Heal
Larval development of the barnacle Ibla cumingi (Cirripedia: Pendunculata: Iblidae) reared in the laboratory
Authors: Yan Yan , Haoru Chen , Liangmin Huang , Lihua Sun
Published: June 2005

Larvae of Ibla cumingi from Daya Bay, China were cultured in the laboratory. Larval development includes six naupliar stages and a non-feeding cypris stage following the ground patterns of cirripeds. Larvae reached the cypris stage in nine days at ∼25°C after hatching. Morphological features including the cephalic shield, frontal horns, labrum, abdominal process, antennules, antennae and mandibles in all nauplii were described and illustrated using light microscopy. A full morphological description of cyprid larvae was provided using scanning electron microscopy. Attempts were made to compare the difference between the larval development model of I. cumingi and that of Ibla species.