bluuebunny/crossref_metadata_2025_split huggingface dataset:
Bone marrow transplantation for Sanfilippo disease type B
Authors: Vellodi A. , Young E. , New M. , Pot‐Mees C. , Hugh‐Jones K. 
Published: June 2005

SummaryAllogeneic bone marrow transplantation was performed on twins with Sanfilippo B disease. They were the first two patients with this disorder to undergo the procedure. There was definite evidence of engraftment as shown by conversion to donor blood group antigen and tissue type, and increased leukocyte α‐glucosaminidase activity. Nine years post transplant, neither twin is as handicapped as her untreated brothers were at the same age, although in one twin hyperactivity and behavioural problems, characteristic of the disorder, are present. Details of the twins' intellectual development and growth, their α‐glucosaminidase activity and urinary glycosaminoglycan excretion are reported.
Zellweger syndrome in a preterm, small for gestational age infant
Authors: Samsom J. F. , Jakobs C. , van de Klei‐van Moorsel J. , Smit L. M. E. , Schutgens R. B. H. , Wanders R. J. A. 
Published: June 2005

SummaryA preterm (gestational age 34 weeks), small for gestational age infant (birth weight <P2,3) is described. Because of unexplained slightly disturbed liver function tests at age 2 months, extensive metabolic examinations were performed. Elevated blood levels of very long‐chain fatty acids, pipecolic acid and abnormal levels of bile acid intermediates were detected, suggesting a peroxisomal disorder. The plasmalogen content of erythrocytes was decreased. Morphologically distinct peroxisomes were absent in the liver. In fibroblasts an accumulation of very long‐chain fatty acids, decreased activity of acyl‐CoA: dihydroxyacetone phosphate acyltransferase and impairedde novo biosynthesis of plasmalogens was found.In summary, a mild variant of the classical cerebro‐hepato‐renal syndrome of Zellweger was found without the characteristic clinical facial signs.
Serotonin and noradrenaline concentrations and serotonin uptake in platelets from hyperphenylalaninaemic patients
Authors: Giovannini M. , Valsasina R. , Longhi R. , Cesura A. M. , Galva M. D. , Riva E. , Bondiolotti G. P. , Picotti G. B. 
Published: June 2005

SummaryIn three untreated patients with phenylketonuria (PKU), three PKU and six hyperphenylalaninaemic (HPA) patients in good metabolic control, the kinetic constants of plateletin vitro uptake of [14C]serotonin (5HT) did not significantly differ from those in 12 control subjects matched for age. The platelet concentrations of endogenous 5HT and noradrenaline (NA), taken as long‐term indices of the amount of these amines circulating in plasma, were lower than normal in PKU and HPA patients, whether or not they were kept on a diet. However, a reduction in plasma NA concentrations at the moment of blood collection was seen only in untreated PKU patients. These data indicate that there may be a chronic inhibition of 5HT and possibly of NA synthesis even in PKU or HPA subjects in good metabolic control, with normal psychomotor development and only slightly raised plasma phenylalanine levels.
The importance of recognizing secondary carnitine deficiency in organic acidaemias: Case report in glutaric acidaemia type II
Authors: Mandel H. , Africk D. , Blitzer M. , Shapira E. 
Published: June 2005

SummarySecondary carnitine deficiency in a patient with glutaric acidaemia type II, due to deficient ETF‐dehydrogenase activity, is described. The patient responded clinically to a pharmacological dose of riboflavin and a restricted protein diet. In the second year of her life she developed more frequent and severe exacerbations during intercurrent infections from which she did not fully recover. Hypotonia and marked ataxia persisted. Plasma carnitine was entirely complexed as acylcarnitine with no free carnitine detected. Retrospective evaluation of several frozen urine specimens obtained since the age of 10 months revealed undetectable free carnitine with elevated acylcarnitine levels. Marked clinical improvement was observed followingL‐carnitine supplementation. The hypotonia and ataxia disappeared. The frequency and the severity of the exacerbations were noticeably decreased. The role ofL‐carnitine in preventing the accumulation of acyl‐CoA compounds in inborn errors of organic acid metabolism is further emphasized by this patient. The necessity to evaluate free carnitine, acylcarnitine and acyl/free ratio in the assessment, follow‐up and management of patients with inborn errors of organic acid metabolism is discussed.
Liver pathology and immunocytochemistry in congenital peroxisomal diseases: a review
Authors: Roels F. , Espeel M. , De Craemer D. 
Published: June 2005

SummaryDiagnostic and pathogenetic investigations of peroxisomal disorders should include the study of the macroscopic and microscopic pathology of the liver, in addition to careful clinical observations, skeletal X‐ray and brain CT scan, assays of very long‐chain fatty acids and bile acid intermediates, and selected enzyme activities. This review of the literature also contains novel observations about the following syndromes: cerebro‐hepato‐renal (Zellweger) syndrome, X‐linked and neonatal adrenoleukodystrophies (ALD, NALD), NALD‐like syndromes, infantile phytanic acid storage, classical Refsum disease, rhizomelic and other forms of chondrodysplasia punctata (XD, XR, AR), hyperpipecolic acidaemia, primary hyperoxaluria I, pseudo‐Zellweger and Zellweger‐like syndromes, and single enzyme deficiencies. Microscopic data include catalase staining and morphometry of peroxisomes, immunolocalization ofβ‐oxidation enzymes, detection of trilamellar, polarizing inclusions in PAS‐positive macrophages, fibrosis and iron storage. Peroxisomal enlargement appears to be related to functional deficit inβ‐oxidation disorders as well as in rhizomelic chondrodysplasia punctata. Because normal peroxisomal localization of activeβ‐oxidation enzymes can accompany a C26β‐oxidation deficit, other mechanisms such as impaired transport of metabolites should be investigated. ‘Ghost’‐like organelles are shown in the liver of an infantile Refsum patient and in an NALD‐like case; immuno‐gold labelling of membrane proteins did not reveal ghosts in Zellweger livers.
Apparent absence of glycogen branching enzyme activity in phosphofructokinase deficiency
Authors: Barash V. , Lilling S. , Fischer R. , Argov Z. 
Published: June 2005

SummaryA 30‐year‐old woman with clinical features and biochemical findings of muscle phosphofructokinase deficiency was found to have a very low level of α‐1,4‐glucan:α‐1,4‐glucan‐6‐transglucosylase (branching enzyme, EC 2.4.1.18) activity in muscle. In contrast, branching enzyme activity in the leukocytes was in the range of control values. After sedimentation of the glycogen from muscle homogenates by centrifugation at 105 000 g, branching enzyme activity in muscle of the patient was similar to that of control subjects. This patient illustrates the possibility of falsely diagnosing branching enzyme deficiency when muscle glycogen content is elevated. It is likely that such an artefact may also cause a false positive diagnosis of branching enzyme deficiency in other metabolic diseases associated with glycogen accumulation.
The use of recombinant DNA techniques for the diagnosis of familial hypercholesterolaemia
Authors: Humphries S. , Taylor R. , Jeenah M. , Seed M. 
Published: June 2005

SummaryIn the UK, about 5% of patients with familial hypercholesterolaemia have a detectable deletion or rearrangement of part of the LDL‐receptor gene. This results in the detection of shorter or abnormal sized fragments of the LDL‐receptor gene in a Southern blot hybridization. This can be used to follow the inheritance of the defective gene, and for diagnosis in the families of these individuals. In the families of the rest of the patients, diagnosis may be possible using linked restriction fragment length polymorphisms (RFLPs) detected with the LDL‐receptor probe. There are now ten common RFLPs of the LDL‐receptor gene, with variable sites in the 3′ half of the gene. Over 80% of patients are heterozygous for at least one of these RFLPs, and therefore potentially informative for DNA diagnosis. For a foetus at risk of homozygous familial hypercholesterolaemia, antenatal diagnosis may also be possible using these methods. However, family studies require samples to be available from affected or unaffected relatives of the patient, and this limits the applicability of the tests. For some mutations, the base pair change causing the defect in the LDL‐receptor itself creates or destroys a site for a restriction enzyme. Such ‘mutation‐specific’ RFLPs could be used for population screening, but so far have only been reported for the familial hypercholesterolaemia mutation that is common in Lebanon. In the future it may be possible to develop mutation‐specific oligonucleotide probes for the diagnosis of familial hypercholesterolaemia. These would be appropriate for population screening or screening patients with hyperlipidaemia. This information may be useful if different mutations require different therapeutic strategies.
Thyroid structure and function in bovine β‐mannosidosis
Authors: Lovell K. L. , Jones M. Z. , Patterson J. , Abbitt B. , Castenson P. 
Published: June 2005

SummaryIn bovine β‐mannosidosis, the thyroid in the affected newborn shows marked cytoplasmic vacuolation. There is an associated reduction in the serum concentrations of thyroxine and tri‐iodothyronine.
Mild form of methylmalonic aciduria misdiagnosed as propionic acidaemia during a ketotic crisis
Authors: Tavares de Almeida I. , Duran M. , Silva M. F. B. , Portela R. , Cabral A. , Tasso T. , Eusébio F. , Silveira C. 
Published: June 2005

SummaryA patient with methylmalonic acidaemia was initially misdiagnosed on the basis of an organic acid profile as having propionic acidaemia during a period of ketosis
Vitamins: An evolutionary perspective
Authors: Scriver C. R. 
Published: June 2005

AbstractAccess to vitamins and the genetic endowment to utilize them maintain vitamin‐dependent metabolic homeostasis in heterotrophs. Whereas the extent of adverse nutritional experiences has declined in modern human societies, phenocopies of deficiency diseases persist; accordingly, they have high heritability. The “vitamin‐responsive hereditary metabolic diseases” identify DNA that specifies conserved apoenzyme domains interacting with coenzyme and the cellular processes providing access to coenzymes. Could heterozygosity at those loci also be a determinant of disease (or health) under certain circumstances?
Prospective ascertainment of complete and partial serum biotinidase deficiency in the newborn
Authors: Dunkel G. , Scriver C. R. , Clow C. L. , Melançon S. , Lemieux B. , Grenier A. , Laberge C. 
Published: June 2005

SummaryWe screened 163 000 newborn filter‐paper blood samples for serum biotinidase deficiency (McKusick 25326) and found 15 probands: three had complete deficiency (incidence 18.4 cases per million live births, 95% confidence interval 4–54 cases per million); the others had partial deficiency. The positive predictive value of the test for either form of biotinidase deficiency was 9.86%. We found seasonal variation in biotinidase activity in filter‐paper blood samples. The cost per test was Can .27 (1987 dollar value) and per case of complete deficiency ascertained, $15 500. Family studies indicated that complete serum biotinidase deficiency is a homozygous phenotype and partial deficiency is the heterozygous form. Homozygous cases were treated with biotin and have shown no clinical manifestations (55 patient‐months of observation). None of the heterozygotes (n=42, age 3 months – 62 years) has clinical manifestations. The number of heterozygotes found by screening was much less than predicted probably because the screening test detects mainly the samples with very low (outlier) biotinidase activity. The variant allele(s) for biotinidase deficiency was more common in French Canadians than in other ethnic groups in Quebec; there was no evidence of regional clustering or founder effect.
Correction of sphingomyelinase deficiency in Niemann‐Pick type C fibroblasts by removal of lipoprotein fraction from culture media
Authors: Thomas G. H. , Tuck‐Muller C. M. , Miller C. S. , Reynolds L. W. 
Published: June 2005

SummaryThe average sphingomyelinase activity of fibroblasts obtained from 12 Niemann‐Pick type C patients was 37.9% of that of normal fibroblasts (27.2versus 72nmol(mg protein)−1h−1) when the cells were cultured in minimum essential medium containing 13% fetal bovine serum. Following replacement of the above medium with medium in which the lipoprotein fraction had been removed from the fetal bovine serum, the sphingomyelinase activity rose over a 7‐day period from about 1/3 of normal to normal or above. Upon reintroduction of medium containing 10% fetal bovine serum which had not been extracted, the sphingomyelinase activity of the Niemann‐Pick type C cells again fell within 48h to 30% of the normal controls. In contrast, cell lines from patients with either Niemann‐Pick Type A or B were not influenced by the presence or the absence of lipoprotein, i.e. lacked sphingomyelinase activity under all culture conditions examined. Histochemical staining with filipin showed an inverse relationship between the sphingomyelinase activity and intracellular, free, unesterified, cholesterol level. Moreover, immunochemical staining with an antibody against a lysosomal membrane protein provided direct evidence that the accumulation of unesterified cholesterol in cells cultured in regular (non‐extracted) medium occurred within lysosomes and/or related organelles.
Deoxyribose‐5‐phosphate aldolase deficiency — A harmless inborn error of metabolism
Authors: Chappel A. , Scholem R. D. , Brown G. K. , Truscott R. M. , Cotton R. G. H. , Haan E. A. , Danks D. M. 
Published: June 2005

AbstractEvidence is presented that a deficiency of 2‐deoxyribose‐5‐phosphate aldolase was present in a previously described patient who excreted metabolites of 2‐deoxyribose in his urine. Minor clinical abnormalities present did not appear related to this disorder.
The iduronate sulphatase activities of cells and tissue fluids from patients with Hunter syndrome and normal controls
Authors: Dean M. F. 
Published: June 2005

AbstractThe substrateO‐(α‐L‐idopyranosyuronic acid‐2‐sulphate)‐(1 → 4)‐2,5‐anhydro‐D‐(3H‐1) mannitol‐6‐sulphate was used at a final concentration of 50 mmol/l to measure theα‐L‐idurono‐2‐sulphate sulphatase activities of cell extracts, serum and amniotic fluid. Activities were measured after dialysis against water, to avoid the inhibitory effect of sodium chloride and the reaction products separated by ion‐exchange chromatography on ECTEOLA cellulose. The enzyme present in normal serum had an apparentKm of 0.12 mmol/l. The mean activities of normal serum, fibroblasts and leukocytes were 0.61, 16.63 and 18.75 nmol/mg protein per hour respectively, while corresponding ‘Hunter’ tissues contained between 1% and 3% of normal activity. Cultured normal amniotic cells had a mean activity of 8.46 nmol/mg protein per hour, while those cultured from ‘Hunter’ patients contained about 6% of normal activity. Hunter disease can thus be readily diagnosed in a wide variety of tissues. Samples from three obligate heterozygotes were found to have iduronate sulphatase activities amounting to 41%, 57% and 63% of normal values.
Direct alteration of a gene in the human genome
Authors: Smithies O. 
Published: June 2005

AbstractDirect alteration of a gene in the human genome requires an understanding of the role of the gene in metabolism. A gene may need to be introduced into a specific tissue or alternatively it may be possible to use accessible tissue such as bone marrow. The level of gene expression required also needs to be known as does the position in the genome into which the gene is to be inserted. Insertion of DNA needs to be of high efficiency and accuracy. Various methods are available including virus, the use of inert adjuvant, microinjection and electroporation. The procedure with the most potential for accuracy is the use of specially designed plasmids. The example of the use of such a plasmid in achieving target modification of the β‐globin gene is given. The method has high accuracy but low efficiency.
Endolymphatic potassium of the chicken vestibule during embryonic development
Authors: Masetto Sergio , Zucca Giampiero , Bottà Luisa , Valli Paolo 
Published: June 2005

AbstractThe endolymph fills the lumen of the inner ear membranous labyrinth. Its ionic composition is unique in vertebrates as an extracellular fluid for its high‐K+/low‐Na+ concentration. The endolymph is actively secreted by specialized cells located in the vestibular and cochlear epithelia. We have investigated the early phases of endolymph secretion by measuring the endolymphatic K+ concentration in the chicken vestibular system during pre‐hatching development. Measurements were done by inserting K+‐selective microelectrodes in chicken embryo ampullae dissected at different developmental stages from embryonic day 9 up to embryonic day 21 (day of hatching). We found that the K+ concentration is low (<10 mM/L) up to embryonic day 11, afterward it increases steeply to reach a plateau level of about 140 mM/L at embryonic day 19–21. We have developed a short‐term in vitro model of endolymph secretion by culturing vestibular ampullae dissected from embryonic day 11 chicken embryos for a few days. The preparation reproduced a double compartment system where the luminal K+ concentration increased along with the days of culturing. This model could be important for (1) investigating the development of cellular mechanisms contributing to endolymph homeostasis and (2) testing compounds that influence those mechanisms.
Cultivating knowledge sharing through the relationship management maturity model
Authors: Martin Valerie A. , Hatzakis Tally , Lycett Mark , Macredie Robert 
Published: June 2005

PurposeThe purpose of this paper is to present the development of the relationship management maturity model (RMMM), the output of an initiative aimed at bridging the gap between business units and the IT organisation. It does this through improving and assessing knowledge sharing between business and IT staff in Finco, a large financial services organisation.Design/methodology/approachThe objectives were achieved by undertaking ethnographic research with the relationship managers (RMs) as they carried out their activities, and developing the RMMM by visualizing the development of a community of practice (CoP) between business and IT.FindingsThe RMMM demonstrates a learning mechanism to bridge the business/IT gap through an interpretive approach to knowledge sharing by defining knowledge sharing processes between business and IT and defining the tasks of the relationship managers as facilitators of knowledge sharing.Research limitations/implicationsMore research is necessary to determine whether the RMMM is a useful tool on which Finco can base the development of RM over the next few years.Practical implicationsThe RMMM acts as a practical knowledge management tool, and will act as a future reference for the RMs as they attempt to further develop the business/IT relationship.Originality/valueThe findings provide an initial endorsement of the knowledge sharing perspective to understand the business/IT relationship. Also, the RMMM can be used to identify problematic issues and develop processes to address them.
Symbols and symbolization in clinical practice and in Elisabeth Marton's film My Name was Sabina Spielrein
Authors: Gibeault Alain 
Published: June 2005

Abstract:  If symbolization can be defined, in a general way, as the operation of substitution by which something can represent something else for someone, the Freudian discovery of the unconscious introduced the idea of a process of work whereby the subject is differentiated from the object. As a consequence, the vicissitudes of symbolization are related to the vicissitudes of the drive.The clinical case of a psychotic patient treated in individual psychoanalytic psychodrama shows the possibility of overcoming violence and destructivity thanks to the work of representation and symbolization of the denied and split psychic movements. Thanks to the third party function of the leader and of the analytic setting, the individual psychoanalytical psychodrama favours psychic change. Elisabeth Marton's film illustrates this issue in so far as the destructive passion between Sabina Spielrein and Jung was partly transformed into a creative work with Freud's role as a third party.
Sandplay in Jungian analysis: matter and symbolic integration1
Authors: Castellana Franco , Donfrancesco Antonietta 
Published: June 2005

Abstract:  Jung described a way of thinking, tied to sensations and feelings, that is a thought connected to the body. Again in The Archetypes and the Collective Unconscious, Jung (1954) speaks of the symbol as a ‘live body’, corpus et anima. If the mind cannot credit itself with the discomfort that manifests through the body, this is a sign of a separation between mind and body. A consequence of all this is the literalization of the discomfort which makes it impossible to have a symbolic dimension.Therapy activates a process in which the patient can move from a stage of separation to a possible connection between mind and body, resulting in changes in the level of communication and of awareness. The mind opens itself to symbolization and the body becomes a field for a common language. From our reflections we have come to ascertain that we can speak of analysis only when an imaginary space is achieved, an intermediate space between the patient and the analyst, a space that is created from the intertwining of the symbolic capability of the patient with that of the analyst.Focusing our attention on the use of sandplay in analytic therapy, we know that one puts in the sand box objects that are marks of our psyche, visible traits that contain actions, corporeal movements and feelings. When one focuses on the overall representation built, one can go beyond the literal image and the analyst, keeping alive the image through his symbolic capability, opens the possibility of a dialogue with the symbolic dimension. The imagination as a symbolic thought is the humus that allows the analyst to maintain the intermediate symbolic level open by activating a symbolic process within the dialectic of the analysis.
LONG‐TERM EFFECTS OF UNPAID OVERTIME
Authors: Pannenberg Markus 
Published: June 2005

AbstractWhy do people work unpaid overtime? Using data from the German Socio‐Economic Panel, we show that remarkable long‐term labour earnings gains are associated with unpaid overtime in West Germany. A descriptive analysis suggests that over a 10‐year period workers with unpaid overtime experience on average at least a 10 percentage points higher increase in real labour earnings than their co‐workers. Applying panel data models this result generally holds. Furthermore, we find some evidence for gender specific differences with respect to the effects of unpaid overtime worked. Our results point to the importance of investment in current working hours beyond the standard work week to enhance real earnings prospects.
GENETIC ENDOWMENTS, PARENTAL AND CHILD HEALTH IN RURAL ETHIOPIA
Authors: Kebede Bereket 
Published: June 2005

AbstractThe determinants of long‐term child health in Ethiopia – as measured by height‐for‐age z‐scores – are examined controlling for community, household and individual level heterogeneity. The influence of parental health and the role of genetics are analysed. The height of parents is highly significant but no significant correlation with per capita expenditures is found. Food prices, birth order, sex and age of children, number of siblings of the mother, years of marriage and altitude are important determinants. Deprivations in later years are more important than during pre‐ or neo‐natal periods. Genetic inheritance seems to explain the correlations between child and parental health.