bluuebunny/crossref_metadata_2025 huggingface dataset:
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylalanine hydroxylase deficiency
Authors: Leuzzi V. , Carducci C. , Carducci C. , Chiarotti F. , Artiola C. , Giovanniello T. , Antonozzi I.
Published: April 2006

A fall in blood phenylalanine (Phe) after tetrahydrobiopterin (BH4) administration is a common trait in phenylalanine hydroxylase (PAH, EC 1.14.16.1) deficiency (McKusick 261600). To explore the extent and biological correlates of this phenomenon we studied: (a) the spectrum of BH4 response in patients with PAH deficiency; (b) the variability of BH4 response according to the severity of the biochemical phenotype; and (c) the variability of the response to BH4 in subjects with the same genotype. Fifty PAH‐deficient subjects (age 1 month–35 years) were enrolled for the study (5 with mild hyperphenylalaninaemia (MHPHE), 15 with mild phenylketonuria (MPKU) and 30 with classic phenylketonuria (CPKU) and underwent an identical schedule of blood samplings 24 h before and after oral BH4 challenge (6(R)‐BH4, 20 mg/kg per day), leaving Phe intake unchanged. The effect of BH4 on blood Phe concentration was evaluated according to the percent decrease of Phe during the 24 h following the challenge (criterion a), and as variation exceeding the individual variability of blood Phe (criterion b). The number of BH4‐responders according to criterion b was 31 (including all the 14 detected by criterion a): 17 out of 30 CPKU (57%), 9 out of 15 MPKU (60%), and all the MHPHE subjects (χ2 = 3.45, df = 2, p = 0.178). The effect of BH4 showed a large interindividual variability unrelated to diagnostic classification, basal value of blood Phe, maximum percentage of Phe reduction, Phe intake, and genotype. Some inconsistencies were found in patients with identical genotype. The first responsive case homozygous for the severe R408W mutation was found. Two new mutations, Y387X and G352C, were identified (the former was BH4‐responsive), and the responsiveness of three already reported mutations (R261Q, D338Y, T92I) was substantiated.
Homocysteine metabolism, hyperhomocysteinaemia and vascular disease: An overview
Authors: Castro R. , Rivera I. , Blom H. J. , Jakobs C. , de Almeida I. Tavares
Published: April 2006

Hyperhomocysteinaemia has been regarded as a new modifiable risk factor for atherosclerosis and vascular disease. Homocysteine is a branch‐point intermediate of methionine metabolism, which can be further metabolised via two alternative pathways: degraded irreversibly through the transsulphuration pathway or remethylated to methionine by the remethylation pathway. Both pathways are B‐vitamin‐dependent. Plasma homocysteine concentrations are determined by nongenetic and genetic factors. The metabolism of homocysteine, the role of B vitamins and the contribution of nongenetic and genetic determinants of homocysteine concentrations are reviewed. The mechanisms whereby homocysteine causes endothelial damage and vascular disease are not fully understood. Recently, a link has been postulated between homocysteine, or its intermediates, and an alterated DNA methylation pattern. The involvement of epigenetic mechanisms in the context of homocysteine and atherosclerosis, due to inhibition of transmethylation reactions, is briefly overviewed.
HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis‐like presentation
Authors: Fecarotta S. , Parenti G. , Vajro P. , Zuppaldi A. , Casa R. Della , Carbone M. T. , Correra A. , Torre G. , Riva S. , Dionisi‐Vici C. , Santorelli F. M. , Andria G.
Published: April 2006

We report a 3‐year‐old Italian patient with the hyperornithinaemia, hyperammonaemia, homocitrullinuria (HHH) syndrome who presented with neurological deterioration after an intercurrent infection. Hyperammonaemia, coagulopathy and moderate hypertransaminasaemia were detected on hospital admission. Severe hepatocellular necrosis with hypertransaminasaemia (aspartate aminotransferase 20 000 UI/L, alanine aminotransferase 18 400 UI/L) and coagulopathy (PT < 5%) rapidly developed within few days, prompting evaluation for liver transplantation. A protein‐restricted diet and arginine supplementation were immediately started, with a rapid improvement of the patient's neurological conditions and normalization of liver function tests and blood ammonia. The diagnosis of HHH syndrome was based on the presence of the typical metabolic abnormalities. Molecular analysis of the SLC25A15 gene showed that the patient was heterozygous for two novel mutations (G113C and M273K). The diagnosis of HHH syndrome should be considered in patients with fulminant hepatitis‐like presentations. Early identification and treatment of these patients can be life‐saving and can avoid liver transplantation.
Successful liver transplantation for argininosuccinate lyase deficiency (ASLD)
Authors: Robberecht E. , Maesen S. , Jonckheere A. , Van Biervliet S. , Carton D.
Published: April 2006

Liver transplantation was performed in a girl with early‐onset ASLD, leading to unrestricted protein intake and no further neurological deterioration.
A patient with common glycogen storage disease type Ib mutations without neutropenia or neutrophil dysfunction
Authors: Martens D. H. J. , Kuijpers T. W. , Maianski N. A. , Rake J. P. , Smit G. P. A. , Visser G.
Published: April 2006

We describe a 16‐year old boy with glycogen storage disease type Ib, homozygous for the common 1211–1212delCT mutation, who never experienced neutropenia, and did not suffer from frequent infections or inflammatory bowel disease. In addition, neutrophil function tests showed no abnormalities.
Measurement of ATP production in mitochondrial disorders
Authors: Shepherd R. K. , Checcarelli N. , Naini A. , De Vivo D. C. , DiMauro S. , Sue C. M.
Published: April 2006

Mitochondrial diseases are a heterogeneous group of disorders caused by mutations in both nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Mitochondrial disease leads to impaired respiratory chain function and reduced ATP production. The aim of this study was to compare disturbances in mitochondrial function by measuring ATP synthesis in fibroblasts derived from patients with nDNA and mtDNA defects. Skin fibroblasts derived from 22 patients with either nDNA‐related disorders (n = 8) or mtDNA‐related disorders (n = 14) were analysed. ATP synthesis was markedly decreased in fibroblasts derived from patients with nDNA‐related disorders but only variably so in patients with mtDNA mutations. In fibroblasts with the MELAS 3243A > G mutation, ATP synthesis correlated with mutant load. We believe that the observed differences in ATP production between cell lines derived from patients with nDNA‐related disorders and mtDNA‐related disorders may help in the assessment of patients with undiagnosed mitochondrial disease. The clinical comparisons observed in patients with nDNA‐ and mtDNA‐related disorders may be explained by differences in the disturbance of ATP synthesis measured in the two conditions.
Psychological complications of patients with Gaucher disease
Authors: Packman W. , Crosbie T. Wilson , Riesner A. , Fairley C. , Packman S.
Published: April 2006

The Minnesota Multiphasic Personality Inventory (MMPI‐2) is commonly used in chronic illness and chronic pain populations to assess psychological functioning. We report the results of the first study employing the MMPI‐2 to assess psychological aspects of patients with Gaucher disease, type I (GD) is an inborn error of metabolism with unique features as a chronic illness: the disorder often presents with mild symptoms, and is frequently diagnosed in later childhood or adulthood; the treatment is highly efficacious, but, that same treatment is intrusive and expensive and requires that patients restructure their work and personal schedules. In this study, 28 patients with GD completed the MMPI‐2 and a background questionnaire. GD patients scored significantly higher than the MMPI‐2 normative sample on MMPI‐2 scales of Validity (K), Hypochondriasis (Hs), Depression (D), Hysteria (Hy), Psychasthenia (Pt) and Schizophrenia (Sc). Individuals with elevated scores on the Hs, D and Hy scales tend to have somatic concerns and depressed mood. Under stress, they are likely to report physical symptoms. Elevated Pt and Sc scales suggest psychological turmoil and, possibly feelings of isolation. An elevated K scale indicates a tendency for individuals to deny psychopathology. The length of time the patient with GD had been on enzyme replacement therapy was not significantly related to any of the 13 MMPI‐2 scales. Cohorts of patients with chronic heart disease (CRHD) and cohorts of patients with chronic pain were utilized as comparative populations in this investigation. The elevated scores of the GD patients on MMPI‐2 scales Hs, D and Hy were similar to those of the CRHD population. The chronic pain patients also showed elevations on MMPI‐2 scales Hs, D and Hy, which were elevated in the GD patients; the elevations in the chronic pain patients were higher than those shown by the GD patients. We conclude that patients with GD exhibit moderate to severe psychological complications, similar to patients with other long‐term chronic illnesses.
An unusual clinical and biochemical presentation of ornithine transcarbamylase deficiency in a male patient
Authors: Burlina A. B. , Peduto A. , Palma A. Di , Bellizzi A. , Sperlì D. , Morrone A. , Burlina A. P.
Published: April 2006

We report a male patient with a history of recurrent idiopathic vomiting, normal plasma ammonia and glutamine concentrations in acute phase, who died at 3 years of age. Ornithine transcarbamylase deficiency was diagnosed after detecting elevated urinary orotate concentrations in a sample collected just before death, and the diagnosis was confirmed by DNA analysis.
Two cases of citrullinaemia presenting with stroke
Authors: Choi J. H. , Kim H. , Yoo H. W.
Published: April 2006

Urea cycle disorders are known to be unusual causes of stroke. We report two infant cases of citrullinaemia that both initially presented with a stroke and suggest that urea cycle disorders should be included in the differential diagnosis of unexplained stroke during infancy and childhood.
Fatty acid oxidation in the human fetus: Implications for fetal and adult disease
Authors: Oey Nadia A. , Ruiter Jos P. N. , Attié‐Bitach Tania , IJlst Lodewijk , Wanders Ronald J. A. , Wijburg Frits A.
Published: April 2006

Studies in the last few years have shown a remarkably high activity of fatty acid oxidation (FAO) enzymes in human placenta. We have recently shown mRNA expression as well as enzymatic activity of long‐chain FAO enzymes in the human embryo and fetus. In this study we show activity of the FAO enzymes carnitine palmitoyltranferase 1, medium‐chain acyl‐CoA dehydrogenase and short‐chain hydroxyacyl‐CoA dehydrogenase in embryonic and fetal tissues. In addition, we show the presence of different acylcarnitines in fetal liver and kidney, which substantiates the notion that the mitochondrial FAO enzymes are not only present in human fetal tissues but also metabolically active. In a glucose‐rich environment FAO might be necessary for additional ATP production from fatty acids, but also for the breakdown of fatty acids that are products of the turnover of membranes in the growing fetus. The importance of FAO in the human embryo and fetus is further stressed by the fact that a higher frequency of prematurity, intrauterine growth retardation, fetal morbidity and intrauterine death is noted in long‐chain FAO defects. Furthermore, in animal studies, gestational loss during early embryonic development has been observed as a consequence of disturbed FAO. Finally, there are indications that regulation of activity of FAO during fetal development might not only be important for fetal life but may also have implications for health and disease in adulthood.
The longest‐surviving patient with classical maple syrup urine disease
Authors: le Roux Carel , Murphy Elaine , Lilburn Maggie , Lee Philip J.
Published: April 2006

The clinical problems, dietary management and biochemical monitoring over a 40‐year period of the longest‐surviving patient with maple syrup urine disease are described. Her case illustrates that a good outcome can be obtained with early diagnosis and institution of a diet restricted in branched‐chain amino acids. Changes in dietary supplementation have benefited her in terms of nutrition and quality of life. Consistently high blood concentrations of branched‐chain amino acids have not been associated with neuropsychometric decline.
Asymmetric dimethylarginine in homocystinuria due to cystathionine β‐synthase deficiency: Relevance of renal function
Authors: Wilcken David E. L. , Wang Jun , Sim Ah Siew , Green Kathryn , Wilcken Bridget
Published: April 2006

Objective Vascular disease is associated with increased plasma asymmetric dimethylarginine (ADMA) and homocysteine, and both are increased in renal failure. In cystathionine β‐synthase deficiency (CBS) there is severe hyperhomocysteinaemia, precocious vascular disease, and endothelial dysfunction. We investigated whether ADMA levels are elevated in CBS patients with and without renal impairment, and whether lowering plasma homocysteine also lowers ADMA.

Methods We measured plasma homocysteine, arginine, asymmetric and symmetric dimethylarginines, nitrate + nitrite, creatinine and cystatin C in 23 CBS‐deficient patients and 24 age‐matched controls.

Results In the patients, nitrate + nitrite and the ratio L‐arginine/ADMA were markedly reduced (21.6 ± 6.1 vs 57.7 ± 7.5 μmol/L and 132.9 ± 24.7 vs 181.9 ± 56.1, respectively, p < 0.001 for both), reflecting endothelial dysfunction. Plasma ADMA for the group was moderately increased (0.55 ± 0.08 vs 0.49 ± 0.07 μmol/L, p = 0.018), but this was due to significantly higher levels than controls in only those 7 of the 23 patients who had elevated cystatin C levels (0.59 ± 0.08 vs 0.49 ± 0.07 mg/L, p = 0.007). Posttreatment total homocysteine in patients varied widely (15–285, median 92 μmol/L), but was not correlated with ADMA or other measured variables. In three newly‐diagnosed patients, marked reduction of total homocysteine during treatment produced minimal changes in ADMA.

Conclusions ADMA levels were significantly increased only in the CBS‐deficient patients with elevated cystatin C levels, and not in those with normal renal function. The reported relationship between hyperhomocysteinaemia and ADMA may not be direct, but could be secondary to reduced renal function.
X‐Linked creatine transporter deficiency in two patients with severe mental retardation and autism
Authors: Póo‐Argüelles P. , Arias A. , Vilaseca M. A. , Ribes A. , Artuch R. , Sans‐Fito A. , Moreno A. , Jakobs C. , Salomons G.
Published: April 2006

We describe the first two unrelated Spanish patients with creatine transporter deficiency initially identified by brain proton magnetic resonance spectroscopy (MRS). The clinical phenotype was characterized by severe mental retardation, epilepsy, autism, severe speech delay and absence of brain creatine by MRS. Urine creatine/creatinine ratio was increased and creatine uptake in fibroblasts was impaired in both patients. On DNA sequence analysis of the SLC6A8/creatine transporter gene, one hemizygous mutation was found in each patient: one mutation was novel and consisted of a deletion of two nucleotides c.878–879delTC in exon 5, resulting in a frameshift (p.Lys293fsX3), and in the other patient a known deletion of three nucleotides 1222–1224delTTC in exon 8 resulting in p.Phe408del. Creatine treatment for one year failed to improve the neurological symptoms and was associated with a striking increase in body weight in both patients (13 and 16 kg, respectively).
The effect of 12‐month enzyme replacement therapy on myocardial perfusion in patients with Fabry disease
Authors: Kalliokoski R. J. , Kantola I. , Kalliokoski K. K. , Engblom E. , Sundell J. , Hannukainen J. C. , Janatuinen T. , Raitakari O. T. , Knuuti J. , Penttinen M. , Viikari J. , Nuutila P.
Published: April 2006

Fabry disease (McKusick 301500) is an X‐linked lysosomal storage disorder secondary to deficient α‐galactosidase A activity which leads to the widespread accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids, especially in vascular smooth‐muscle and endothelial cells. We have recently shown that the myocardial perfusion reserve of Fabry patients is significantly decreased. Thus, in the present study we investigated, whether it can be improved with enzyme replacement therapy (ERT). Ten patients (7 male, 3 female; mean age 34, range 19–49 years) with confirmed Fabry disease were approved for this uncontrolled, open‐label study. Myocardial perfusion was measured at rest and during dipyridamole‐induced hyperaemia by positron emission tomography and radiowater. Myocardial perfusion reserve was calculated as the ratio between maximal and resting perfusion. Perfusion measurements were performed before and after 6 and 12 months of ERT by recombinant human α‐galactosidase A (Fabrazyme, Genzyme). Plasma Gb3 concentration decreased significantly and the patients reported that they felt better and suffered less pain after the ERT. However, neither resting or dipyridamole‐stimulated myocardial perfusion nor myocardial perfusion reserve changed during the ERT. Pretreatment relative wall thickness correlated negatively with posttreatment changes in flow reserve (r = −0.76, p = 0.05) and positively with posttreatment changes in minimal coronary resistance (r = 0.80, p = 0.03). This study shows that 12 months of ERT does not improve myocardial perfusion reserve, although the plasma Gb3 concentration decreases. However, individual variation in the response to therapy was large and the results suggest that the success of the therapy may depend on the degree of cardiac hypertrophy.
Neuropsychometric outcome predictors for adults with maple syrup urine disease
Authors: le Roux C. , Murphy E. , Hallam P. , Lilburn M. , Orlowska D. , Lee P.
Published: April 2006

We describe 14 adult MSUD patients (3 with intermediate MSUD) with varied clinical and neuropsychometric outcomes. Age at diagnosis appears to be a predictor of IQ even in adults, while long‐term blood leucine does not correlate with IQ.
Acid sphingomyelinase deficiency: Cardiac dysfunction and characteristic findings of the coronary arteries
Authors: Ishii H. , Takahashi T. , Toyono M. , Tamura M. , Harada K. , Yoshida M. , Nishikawa Y. , Enomoto K. , Takada G.
Published: April 2006

Two sisters with type B Niemann–Pick disease (genotype: S436R/S436R) showed cardiac dysfunctions, not secondary to pulmonary disease, at the beginning of the third decade. In the younger sister, myocardial dysfunction was refractory to treatment, resulting in death. At autopsy, the distal branches of the coronary arteries showed narrowing of the arterial lumina due to swelling of the medial and intimal smooth‐muscle cells. This is the first report describing characteristic findings of coronary arteries in type B Niemann–Pick disease.
The tandem mass spectrometry newborn screening experience in North Carolina: 1997–2005
Authors: Frazier D. M. , Millington D. S. , McCandless S. E. , Koeberl D. D. , Weavil S. D. , Chaing S. H. , Muenzer J.
Published: April 2006

North Carolina (NC) was the first US state to initiate universal tandem mass spectrometry (MS/MS) newborn screening. This began as a statewide pilot project in 1997 to determine the incidence and feasibility of screening for fatty acid oxidation, organic acid and selected amino acid disorders. The MS/MS analyses were done by a commercial laboratory and all follow‐up and confirmatory testing was performed through the NC Newborn Screening (NBS) Program. In April 1999, the NC NBS Laboratory began the MS/MS analyses in‐house. Between 28 July 1997 and 28 July 2005, 944 078 infants were screened and 219 diagnoses were confirmed on newborns with elevated screening results, for an overall incidence of 1:4300. Ninety‐nine infants were identified with fatty acid oxidation disorders, 58 with organic acidaemias and 62 with aminoacidopathies. Medium‐chain acyl‐CoA dehydrogenase deficiency, 3‐methylcrotonyl‐CoA carboxylase deficiency and disorders of phenylalanine metabolism were the most common disorders detected. Identification of affected infants has allowed retrospective testing of other family members, resulting in an additional 16 diagnoses. Seven neonates died from complications of their metabolic disorders/prematurity despite timely MS/MS screening. In addition, there were six infants who were not identified by elevated NBS results but who presented with symptoms later in infancy. The NC MS/MS NBS Program uses a two‐tier system, categorizing results as either ‘borderline’ or ‘diagnostic’ elevated, for both the cutoffs and follow‐up protocol. Infants with an initial borderline result had only a repeat screen. Infants with a diagnostic or two borderline results were referred for confirmatory testing. The positive predictive value of the NC MS/MS NBS for those infants requiring confirmatory testing was 53% for 2003 and 2004. The success of the NC MS/MS NBS Program in identifying infants with metabolic disorders was dependent on a comprehensive follow‐up protocol integrating the public health laboratory and the academic metabolic centres.
Effect of discontinuing of laronidase in a patient with mucopolysaccharidosis type I
Authors: Anbu A. T. , Mercer J. , Wraith J. E.
Published: April 2006

We present a patient on enzyme replacement therapy who showed rapid deterioration when laronidase was discontinued owing to pregnancy.
Expression profiling reveals multiple myelin alterations in murine succinate semialdehyde dehydrogenase deficiency
Authors: Donarum Elizabeth A. , Stephan Dietrich A. , Larkin Kay , Murphy Eric J. , Gupta Maneesh , Senephansiri Henry , Switzer Robert C. , Pearl Phillip L. , Snead O. Carter , Jakobs C. , Gibson K. Michael
Published: April 2006

Succinic semialdehyde dehydrogenase (SSADH) deficiency, a rare genetic defect of GABA degradation recently modelled in mice (SSADH−/− mice), manifests early absence seizures that evolve into generalized convulsive seizures and lethal status epilepticus in gene‐ablated mice. Disrupted GABA homeostasis, in conjunction with the epileptic phenotype and increased gamma‐hydroxybutyric acid (GHB), suggested that expression profiling with the U74Av2 Affymetrix system would reveal dysregulation of receptor genes associated with GABAergic and glutamatergic neurotransmission. Unexpectedly, we found significant downregulation for genes associated with myelin biogenesis and compaction, predominantly in hippocampus and cortex. These results were confirmed by: (1) myelin basic protein (MBP) immunohistochemistry; (2) western blotting of myelin‐associated glycoprotein (MAG) and MBP; (3) qRT‐PCR analyses of myelin‐associated oligodendrocytic basic protein (MOBP), MAG, MBP and proteolipid protein (PLP) in hippocampus, cortex and spinal cord; (4) quantitation of ethanolamine and choline plasmalogens, all core myelin components; (5) evaluation of myelin content in brain sections employing toluidine blue staining; and (6) ultrastructural evaluation of myelin sheath thickness via electron microscopy. We speculate that increased GABA/GHB, acting through GABAergic systems, results in decreased levels of the neurosteroids progesterone and allopregnanolone [Gupta et al (2003) Ann Neurol54(Supplement 6): S81–S90] and phosphorylation of mitogen‐activated protein (MAP) kinase, with resulting myelin protein abnormalities primarily in the cortex of SSADH−/− mice.
Properties of and Algorithms for Fitting Three-Way Component Models with Offset Terms
Authors: Kiers Henk A. L.
Published: April 2006

Prior to a three-way component analysis of a three-way data set, it is customary to preprocess the data by centering and/or rescaling them. Harshman and Lundy (1984) considered that three-way data actually consist of a three-way model part, which in fact pertains to ratio scale measurements, as well as additive “offset” terms that turn the ratio scale measurements into interval scale measurements. They mentioned that such offset terms might be estimated by incorporating additional components in the model, but discarded this idea in favor of an approach to remove such terms from the model by means of centering. Then estimates for the three-way component model parameters are obtained by analyzing the centered data. In the present paper, the possibility of actually estimating the offset terms is taken up again. First, it is mentioned in which cases such offset terms can be estimated uniquely. Next, procedures are offered for estimating model parameters and offset parameters simultaneously, as well as successively (i.e., providing offset term estimates after the three-way model parameters have been estimated in the traditional way on the basis of the centered data). These procedures are provided for both the CANDECOMP/PARAFAC model and the Tucker3 model extended with offset terms. The successive and the simultaneous approaches for estimating model and offset parameters have been compared on the basis of simulated data. It was found that both procedures perform well when the fitted model captures at least all offset terms actually underlying the data. The simultaneous procedures performed slightly better than the successive procedures. If fewer offset terms are fitted than there are underlying the model, the results are considerably poorer, but in these cases the successive procedures performed better than the simultaneous ones. All in all, it can be concluded that the traditional approach for estimating model parameters can hardly be improved upon, and that offset terms can sufficiently well be estimated by the proposed successive approach, which is a simple extension of the traditional approach.
Multilevel Model Prediction
Authors: Frees Edward W. , Kim Jee-Seon
Published: April 2006

Multilevel models are proven tools in social research for modeling complex, hierarchical systems. In multilevel modeling, statistical inference is based largely on quantification of random variables. This paper distinguishes among three types of random variables in multilevel modeling—model disturbances, random coefficients, and future response outcomes—and provides a unified procedure for predicting them. These predictors are best linear unbiased and are commonly known via the acronym BLUP; they are optimal in the sense of minimizing mean square error and are Bayesian under a diffuse prior.

For parameter estimation purposes, a multilevel model can be written as a linear mixed-effects model. In this way, parameters of the many equations can be estimated simultaneously and hence efficiently. For prediction purposes, we show that it is more convenient to retain the multiple equation feature of multilevel models. In this way, the efficient BLUPs are easy to compute and retain their intuitively appealing recursive form. We also derive explicit equations for standard errors of these different types of predictors.

Prediction in multilevel modeling is important in a wide range of applications. To demonstrate the applicability of our results, this paper discusses prediction in the context of a study of school effectiveness.
Can a sexually dimorphic index of prenatal hormonal exposure be used to examine cold pressor pain perception in men and women?
Authors: Keogh Edmund , Mounce Charlotte , Brosnan Mark
Published: April 2006

There is considerable evidence to suggest that important differences exist between men and women in their experience of pain. Research has now turned to determine what the mechanisms of such differences actually are. One potential explanation is the effect of sex hormones, especially those typically found in greater concentration within women, e.g., estrogen, progesterone. However, it is also possible that other hormones, such as testosterone may be important. The current study employed a non‐invasive sexually dimorphic index (digit ratio) that is believed to reflect prenatal exposure to testosterone, and related this to the cold pressor pain experiences of 23 men and 27 healthy women. As expected, females had greater symmetry between the second and fourth digits, and also reported lower pain tolerance levels. Although some significant relationships were found between digit ratio/digit length and cold pressor pain reports they were relatively inconsistent. Furthermore, the main finding, that pain thresholds were positively related to digit ratio in women but not men, is somewhat inconsistent with predictions. The results are discussed in light of methods for investigating the effect of prenatal hormonal exposure on pain sensitivity in men and women.
Immunoglobulin concentrations in feline colostrum and milk, and the requirement of colostrum for passive transfer of immunity to neonatal kittens
Authors: Claus Melissa A , Levy Julie K , MacDonald Kristin , Tucker Sylvia J , Crawford P Cynda
Published: April 2006

The purpose of this study was to clarify whether cats have a colostral and milk phase of lactation differentiated by concentrations of immunoglobulins, and whether colostrum ingestion by newborn kittens is essential for optimal transfer of passive immunity. Milk from specific pathogen-free queens was analyzed for IgG and IgA concentrations from parturition through 6 weeks of lactation. Serum IgG and IgA concentrations from birth through 8 weeks of age were determined for colostrum-fed kittens, colostrum-deprived kittens that were fed a milk replacer, and colostrum-deprived kittens that were fostered onto queens in the milk phase of lactation. The total IgG and IgA concentrations in milk were significantly higher on the day of parturition than on day 7 of lactation, indicating cats do have a colostral phase of lactation. The predominant immunoglobulin in both colostrum and milk was IgG. The serum IgG concentrations in colostrum-deprived kittens fostered on queens in the milk phase of lactation were similar to colostrum-deprived kittens fed a milk replacer, and the concentrations were significantly lower than in colostrum-fed kittens for the first 4 weeks of life. The serum IgA concentrations in both colostrum-deprived groups were significantly lower than colostrum-fed kittens on day 2 after parturition, but were similar thereafter. Colostrum-deprived kittens fostered onto queens in the milk phase of lactation had failure of passive transfer of maternal antibodies. Protective concentrations of immunoglobulins can be restored in kittens with failure of passive transfer of immunity by parenteral administration of adult cat serum, but not by fostering on queens in mid-lactation.
Intracranial neoplasia in 61 cats: Localisation, tumour types and seizure patterns
Authors: Tomek Aleš , Cizinauskas Sigitas , Doherr Marcus , Gandini Gualtiero , Jaggy André
Published: April 2006

The purpose of this study was to analyse retrospectively a feline population with intracranial neoplastic diseases, to document seizure patterns in these animals and to determine whether partial seizures were more frequently associated with structural brain lesions then generalised seizures. In addition, a comparison was made within the population with intracranial neoplasia between two groups of cats: one with and one without seizures. Special emphasis was given to the evaluation of tumour type, localisation and size of the lesion and its correlation with seizure prevalence. Sixty-one cats with histopathological diagnosis of intracranial tumour were identified. Fourteen cats (23%; group A) had a history of seizure(s). Forty-seven cats (77%; group B) had no history of seizure(s). Generalised tonic-clonic seizures were seen in eight cats (57%) and were the most common seizure pattern in our cats with intracranial neoplasia. Clusters of seizures were observed in six cats. Status epilepticus was observed in one patient. The mean age of the cats was 7.9 years within group A (median 8.5) and 9.3 years (median 10) within group B. The cats with lymphoma within both groups were significantly younger than cats with meningioma. In both groups meningioma and lymphoma were confirmed to be the most frequent tumour type, followed by glial cell tumours. The prevalence of the seizures in patients with glial cell tumours was 26.7%, 26.3% in patients with lymphomas and 15% in cases with meningiomas. In 33 cases (54.1%) the tumours were localised in the forebrain, 15 tumours (24.6%) were in the brainstem, four (6.6%) in the cerebellum and nine tumours (14.7%) had multifocal localisation. Parietal lobe and basal ganglia mostly affected group A. In group B tumours were most frequently located in the parietal and frontal lobes as well as in the diencephalon. A positive association was documented between the localisation of a tumour in the forebrain and seizure occurrence.
On the provenance of mid-Cretaceous turbidites of the Pindos zone (Greece): implications from heavy mineral distribution, detrital zircon ages and chrome spinel chemistry
Authors: FAUPL P. , PAVLOPOULOS A. , KLÖTZLI U. , PETRAKAKIS K.
Published: April 2006

Two heavy mineral populations characterize the siliciclastic material of the mid-Cretaceous turbidites of the Katafito Formation (‘First Flysch’) of the Pindos zone: a stable, zircon-rich group and an ophiolite-derived, chrome spinel-rich one. U/Pb and Pb/Pb dating on magmatic zircons from the stable heavy mineral group clearly illustrate the existence of Variscan magmatic complexes in the source terrain, but also provide evidence for magmatism as old as Precambrian. Based on microprobe analyses, the chrome spinel detritus was predominantly supplied from peridotites of mid-ocean ridge as well as suprasubduction zone origin. A small volcanic spinel population was mainly derived from MORB and back-arc basin basalts. The lithological variability of the mid-Cretaceous ophiolite bodies, based on spinel chemistry, is much broader than that of ophiolite complexes presently exposed in the Hellenides. The chrome spinel detritus compares closely with that from the Outer and Inner Dinarides. The source terrain of the ophiolite-derived heavy minerals was situated in a more internal palaeogeographic position than that of the Pindos zone. The zircon-rich heavy mineral group could have had either an external and/or an internal source, but the chrome spinel constantly accompanying the stable mineral detritus seems to be more indicative of an internal source terrain.
Carbon sequestration potential and sustainable yield index for groundnut- and fallow-based cropping systems
Authors: GHOSH P. K. , MANNA M. C. , DAYAL D. , WANJARI R. H.
Published: April 2006

Soil organic carbon storage encompasses both soil productivity and environmental capabilities. The influence of fertilizer (nitrogen and phosphorus) levels (0 NP, 0·5 NP, 1·0 NP (recommended standard) or 1·5 NP) on total system productivity, sustainable yield index and soil organic carbon storage in Vertisols (Typic Haplustert) under groundnut and fallow-based cropping systems were examined in a field experiment over 6 years. The aim was to identify a system that provided an acceptable balance between total system productivity and soil organic carbon restoration. The experiment comprised two rainy season crops (groundnut or fallow) and five post-rainy season crops (wheat, mustard, chickpea, sunflower or summer groundnut), each post-rainy season crop with four levels of NP fertilizer. The total system productivity was 130% higher in the groundnut-based than in the fallow-based system and was in the order: groundnut–groundnut>groundnut–chickpea>groundnut–wheat>groundnut–mustard>groundnut–sunflower. The sustainable yield index was highest in the groundnut–groundnut system. The gross C input was relatively higher in the groundnut-based system but the C loss rate was greater. The amount of residue needed per ha per year to compensate for loss of soil organic carbon was estimated to be 4·3 t in the fallow-based and 7·6 t in the groundnut–based cropping system. Though the total system productivity was greater in groundnut–groundnut and groundnut–chickpea systems, soil organic carbon declined. The groundnut–wheat system contributed more C, particularly root biomass C, than other systems, improved the restoration of soil organic carbon and maintained total system productivity. It was concluded that current fertilizer recommendations are adequate for maintaining yields in groundnut-based systems but the addition of crop residues at regular intervals along with fertilizer is necessary to maintain restoration of soil organic carbon.
GPS Satellite Velocity and Acceleration Determination using the Broadcast Ephemeris
Authors: Zhang Jason , Zhang Kefei , Grenfell Ron , Deakin Rod
Published: April 2006

Satellite velocity determination using the broadcast ephemeris is discussed and it is pointed out that the conventional rotation matrix method involves a complicated process of computation. This paper proposes an alternative method using a simple differentiator to derive satellite Earth-Centred-Earth-Fixed (ECEF) velocity from the ECEF satellite positions that are calculated using the standard ICD-GPS-200 algorithm. The proposed algorithm simplifies the velocity transformation procedure, and therefore provides a good alternative. It is demonstrated that ±1 mm/s per axis ECEF satellite velocity is achievable by using the first-order central difference of a Taylor series approximation.

A closed-form formula is also derived for the determination of GPS satellite ECEF acceleration using the broadcast ephemeris. This formula is capable of accuracies better than ±0·1 mm per second squared in each axis. With such a high accuracy of satellite acceleration in real-time, it is possible to detect the line-of-sight range acceleration precisely and as such it is concluded that a GPS receiver can be considered as a precise accelerometer.

The success of the position differential method implies that real-time satellite ECEF velocities can be directly derived through numerical differentiation of the position polynomials. This is desirable for GPS velocity determination applications which require high output rate results in real-time. The derived closed-form formula for GPS satellite ECEF acceleration would benefit those who attempt to use a GPS receiver as an accurate accelerometer in real-time.
Piloting By Heart And By Chart
Authors: Lützhöft Margareta H. , Nyce James M.
Published: April 2006

This paper describes the complexity of the Baltic archipelago, and the navigational and operational processes involved in piloting these waters. This four year ethnographic study shows how piloting is learned, performed, and passed on to the next generation of pilots. The blend of new technology and old methods is discussed, the indivisibility of working and learning, and the individuality of the mental constructs of the mariners/pilots.
High Accuracy Pseudolite-based Navigation System: Compensating for Right-Hand Circularly Polarized Effect
Authors: Jun Haeyoung , Kee Changdon
Published: April 2006

This paper presents further research on the SNUGL pseudolite-based navigation system presented in this journal in 2003. This system has centimetre-level accuracy, but has an error source arising from right-hand circularly polarized (RHCP) transmissions, unlike outdoor Global Positioning System (GPS). The GPS satellites and pseudolites use RHCP signals, and the polarization affects carrier-phase measurements according to the Line-of-Sight (LOS) vectors from transmitters to receivers. The RHCP error is eliminated by a double differencing process in outdoor GPS, but the error remains in the pseudolite-based system because the LOS vectors from transmitters to a reference and user receivers are different for the close transmitter constellations. This paper shows the RHCP effect on the pseudolite-based navigation system through simulations and experiments. It then shows the RHCP-compensation method improves the measurement and position accuracy by over 10%.
Flying EGNOS Approaches in the Swiss Alps
Authors: Perrin Olivier , Scaramuzza Maurizio , Buchanan Thomas , Brocard Daniel
Published: April 2006

The European Geostationary Navigation Overlay Service (EGNOS) system is being developed in Europe to provide Global Positioning System (GPS) and GLONASS regional augmentation services to aviation, maritime and land users. The EGNOS system, as any other Wide Area Augmentation System (WAAS), relies on the broadcast of differential correction and integrity information in the pseudo-range domain, which are then used to provide a solution in the position domain. EGNOS is a major element of the European Satellite Navigation Program, which is jointly being implemented by the Commission of the European Union, the European Space Agency (ESA) and Eurocontrol (the European Organisation for the Safety of Air Navigation). It is also the first European step to the GALILEO system.

As part of the EGNOS validation activities, flight trials have been organised by ESA and the EGNOS Industrial Consortium at various locations in Europe during Spring 2005. To demonstrate the system capability in a challenging mountainous environment, tests have been conducted at Lugano airport in the Swiss Alps. Due to the difficult topography of the airport and its surroundings, the use of conventional ground based navigation aids present some limitations. For the trials, a new Satellite Based Augmentation System (SBAS) procedure has been designed to take advantage of the system flexibility. In particular, a reduction of the approach glide path angle has been achieved, potentially allowing more aircraft types to fly the approach than today. This article presents the operational benefits that could be obtained with the new test procedure. The very impressive EGNOS performance is also described in details, showing that it can support Approach Procedure with Vertical guidance (APV) operations even in a very challenging environment.
Restricted visibility: In Search of a Solution
Authors: Salinas Carlos F.
Published: April 2006

In order to avoid a collision it has clearly been proved that for most seafarers there exists a set of possible situations known as head-on, crossing and overtaking, while ignoring in a general way the behaviour they should carry out when their vessel is in conditions of restricted visibility. It is obvious that the existence of two different manoeuvre methods in relation to the prevailing visibility confuses the navigator. But there is still more. With the arrival of AIS, the present wording of paragraph d) of Rule 19 leaves the seafarer in a state of total uncertainty when deciding the appropriate manoeuvre, so its amendment must be dealt with as a maximum priority. The following paper tries to find a solution to the dilemma, even though this does not imply a radical change in the general conception that a mariner may have of collision avoidance.
Predictability in French gender attribution: A corpus analysis
Authors: LYSTER ROY
Published: April 2006

This article presents a corpus analysis designed to determine the extent to which noun endings in French are reliable predictors of grammatical gender. A corpus of 9,961 nouns appearing in Le Robert Junior Illustré was analysed according to noun endings, which were operationalised as orthographic representations of rhymes, which consist of either a vowel sound (i.e., a nucleus) in the case of vocalic endings or a vowel-plus-consonant blend (i.e., a nucleus and a coda) in the case of consonantal endings. The analysis classified noun endings as reliably masculine, reliably feminine, or ambiguous, by considering as reliable predictors of grammatical gender any noun ending that predicts the gender of least 90 per cent of all nouns in the corpus with that ending. Results reveal that 81 per cent of all feminine nouns and 80 per cent of all masculine nouns in the corpus are rule governed, having endings that systematically predict their gender. These findings, at odds with traditional grammars, are discussed in terms of their pedagogical implications.
Professional football and local identity in the ‘golden age’: Portsmouth in the mid-twentieth century
Authors: PHELPS N.A.
Published: April 2006

The idea that professional football clubs and their supporters are material and cultural expressions of the local has assumed axiomatic status in the academic literature without anything like the depth of empirical evidence that might be expected. Moreover, social trends and changes in the organization of professional football have gone some way to severing these sorts of links between football clubs and their localities. This article presents detailed historical evidence of the complex and multiple local identities surrounding the production and consumption of professional football in Portsmouth, England, in the late 1940s and early 1950s – a period commonly regarded as the ‘golden age’ of football in Britain.
Current bibliography of urban history
Authors: TACEY LIZ , DAVIES TIM
Published: April 2006

This bibliography is a continuation of and a complement to those published in the Urban History Yearbook 1974–91 and Urban History 1992–2002. The arrangement and format closely follows that of previous years. There is an index of towns on p. 597. The list of abbreviations identifies only those periodicals from which articles cited this year have been taken.
Exploring the evolution of a volcanic seismic swarm: The case of the 2000 Izu Islands swarm
Authors: Lombardi Anna Maria , Marzocchi Warner , Selva Jacopo
Published: April 2006

The goal of this paper is to yield physical constrains on the nature and evolution of a seismic swarm by means of a quantitative stochastic modeling of earthquakes occurrence. With this purpose, we fit different stationary and nonstationary stochastic ETAS models to the Izu Islands seismic swarm occurred in 2000. We find that a nonstationary model with background activity and p‐value varying through time describes the observations better than other simpler ETAS models. The coherent fluctuations of these parameters and of the spatio‐temporal earthquake distribution are interpreted in terms of a magma/fluids source process that evolves through outbursts of activity superimposed to low frequency variations. The results obtained suggest that suitable nonstationary ETAS modeling can be very useful to characterize the nature of the swarm source, and it may provide the basis to build a quantitative tool for tracking in almost real‐time the evolution of a magma/fluids source.
ICESat Antarctic elevation data: Preliminary precision and accuracy assessment
Authors: Shuman C. A. , Zwally H. J. , Schutz B. E. , Brenner A. C. , DiMarzio J. P. , Suchdeo V. P. , Fricker H. A.
Published: April 2006

Since ‘first light’ on February 20th, 2003, NASA's Ice, Cloud, and land Elevation Satellite (ICESat) has derived surface elevations from ∼86°N to 86°S latitude. These unique altimetry data have been acquired in a series of observation periods in repeated track patterns using all three Geoscience Laser Altimeter System (GLAS) lasers. Here, we focus on Antarctic ice sheet elevation data that were obtained in 2003–2004. We present preliminary precision and accuracy assessments of selected elevation data, and discuss factors impacting elevation change detection. We show that for low slope and clear sky conditions, the precision of GLA12 Laser 2a, Release 21 data is ∼2.1 cm and the relative accuracy of ICESat elevations is ±14 cm based on crossover differences.