bluuebunny/crossref_metadata_2025_split huggingface dataset:
Complications of surgery for gastroesophageal reflux
Authors: Skinner David B. 
Published: April 2005

AbstractIn the course of approximately 350 operations for gastroesophageal reflux and 1,500 evaluations of patients previously operated on or being assessed for therapy, a number of complications and undesirable side effects of antireflux surgery have been encountered. This report describes unfavorable outcomes including postoperative dysphagia, “gas‐bloat syndrome,” postoperative gastric dilatation, unplanned vagotomy, failure to relieve symptoms, persistence or recurrence of reflux or hiatal hernia, perforation of the esophagus or stomach, postoperative bleeding, unplanned splenectomy, and persistence of stricture, which have followed the antireflux repairs introduced by Belsey, Nissen, or Hill, the gastroplasty procedures described by Thal, and by Collis, intrathoracic fundoplication, and esophageal resection with gastrointestinal interposition.
The current status of low‐dose heparin in the prophylaxis of thrombophlebitis and pulmonary embolism
Authors: Kakkar V. V. 
Published: April 2005

AbstractThe efficacy of low‐dose heparin in preventing postoperative venous thromboembolism has been well established in 27 clinical trials which have been published during the last 3 years. The largest study has been with patients undergoing general abdominal, thoracic, and urological operations. The incidences of isotopic deep vein thrombosis (25%) and extending thrombi likely to produce major pulmonary emboli (6.0%) in the control group have been reduced to 7% and 0.6%, respectively, in those who received heparin. The crucial question concerns the effect of low‐dose heparin in the prevention of fatal pulmonary embolism. This endpoint has been evaluated in a multicenter prospective randomized, controlled trial involving 4,121 patients; 2,076 of these were in the control group and 2,045 received heparin. Sixteen patients in the control group and only 2 in the heparin group were found to have died due to massive pulmonary embolism proved at autopsy. The difference was statistically significant (p<0.005). A careful objective analysis of operative and postoperative bleeding in 1,475 patients showed no statistically significant difference in the blood transfusion requirements or in the fall in the postoperative hemoglobin level either in the individual operative groups or in the group as a whole. However, the experience in patients undergoing total hip replacement demonstrates less evidence of benefit than in other groups of surgical patients. The published evidence and the clinical experience with low‐dose heparin prophylaxis should now be used to influence the practice habits of the profession for preventing fatal pulmonary embolism occurring after major surgery.
The aarhus county vagotomy trial
Authors: Andersen Daniel , Høstrup Hans , Amdrup Erik 
Published: April 2005

AbstractIn a prospective clinical trial, vagotomy for duodenal ulcer (DU) and prepyloric ulcer (PPU) was performed in 748 patients, 353 of whom were randomly allocated to selective gastric vagotomy and drainage (SGV + D), 54 to SGV + antrectomy (A), 273 to parietal cell vagotomy (PCV), and 68 to PCV + D. By 3 months postoperatively, basal acid secretion (BAO) had not stabilized. During the following year patients with SGV + A showed a decrease, while those with the other operations showed a rise in BAO, significant for SGV + D. One year after operation the level of BAO was the same after the 3 operations that did not remove the antrum. Peak acid output after pentagastrin stimulation (PAOPg) continued to decrease from 3 months to 1 year after SGV + A, while the other operations were followed by an increase, statistically significant for PCV. After 1 year the postoperative reduction in PAOPg was 90% for SGV + A, 45% for PCV, and approximately 60% for SGV + D and PCV + D. Overall clinical grading showed more failures following PCV than after SGV. Since failures after PCV were mainly ulcer recurrences, the final grading (after treatment of the failures) showed an equal number of failures for the 2 operations. Calculation of the probability of ulcer recurrence suggested a 6% rate after SGV + D and an 11% rate after PCV. However, when calculations took into account the location of the primary ulcer, the recurrence rate was the same after SGV + D for DU and PPU, while PCV showed a similar rate when used for DU but an incidence of 22% when used for PPU. The risk of recurrence was found to be constant from month to month during the first 2 1/2 years, after which no new recurrent ulcers were observed. It is suggested that for DU, PCV is preferable to SGV + D because the recurrence rate is the same but the incidence of sequelae is lower. When PCV is used for PPU, a higher ulcer recurrence rate may be expected.
Urea cycle defects: Management and outcome
Authors: Nassogne M. C. , Héron B. , Touati G. , Rabier D. , Saudubray J. M. 
Published: April 2005

SummaryThis paper reviews the clinical presentation of 217 patients with urea cycle defects, including 121 patients with neonatal‐onset forms and 96 patients with late‐onset forms. Long‐term outcome of these patients is also reported with the severity of the neonatal forms of these disorders, mostly for ornithine carbamoyltransferase‐deficient males. Patients with late‐onset forms may present at any age and carry a 28% mortality rate and a subsequent risk of subsequent disabilities.
Molecular mechanism of dominant expression in 3‐methylcrotonyl‐CoA carboxylase deficiency
Authors: Baumgartner M. R. 
Published: April 2005

SummaryMost enzyme deficiencies in humans are inherited as autosomal recessive traits. The term dominant negative is applied to mutant alleles in which a mutant protein interferes in one way or another with the function of the normal protein being produced from the wild‐type allele in a heterozygote. Such a dominant negative effect usually involves homomeric or heteromeric proteins. 3‐Methylcrotonyl‐CoA carboxylase (MCC) is a heteromeric mitochondrial enzyme comprised of biotin containing MCCα subunits and smaller MCCβ subunits, encoded by the genes MCCA and MCCB, respectively. Mutations in these genes cause isolated MCC deficiency, an autosomal recessive disorder with a variable phenotype ranging from severe neonatal to asymptomatic adult forms. Patients with MCC deficiency have a characteristic organic aciduria with greatly increased excretion of 3‐hydroxyisovaleric acid (3‐HIVA) and 3‐methylcrotonyl‐glycine (3‐MCG). Here, two patients with elevated excretion of 3‐MCG and 3‐HIVA and partial deficiency of MCC are discussed, one of them with severe neurological symptoms. Both showed evidence of biotin responsiveness and were heterozygous for the missense mutation MCCA‐R385S. Evidence is presented that MCCA‐R385S is a dominant negative allele leading to biochemical abnormalities and clinical symptoms in heterozygous individuals and that it is responsive to pharmacological doses of biotin in vivo.
Congenital brain anomalies in distal cholesterol biosynthesis defects
Authors: Hennekam R. C. M. 
Published: April 2005

SummaryCholesterol is known to be a significant constituent of the central nervous system. It also plays an important role in developmental pathways to form the human brain, such as the Sonic Hedgehog pathway. Disturbances in the formation of cholesterol may therefore be expected to cause brain malformations and brain dysfunctions. Here a short review of the consequences of defects of the distal cholesterol pathways to brain formation and functioning is provided.
Methylmalonic and propionic acidaemias: Management and outcome
Authors: De Baulny H. Ogier , Benoist J. F. , Rigal O. , Touati G. , Rabier D. , Saudubray J. M. 
Published: April 2005

SummaryOrganic acidurias comprise many various disorders. Methylmalonic aciduria (MMA) and propionic aciduria (PA) are the most frequent diseases and the two organic acidurias for which we have better knowledge of the long‐term outcome.Comparing the outcome of patients born before and after 1990, it appears that better neonatal and long‐term management have improved the survival rate. Less than 20% of the patients died in either the neonatal period or before the age of 10 years. However, most surviving patients showed poor nutritional status with growth retardation and about 40% present some kind of visceral or neurological impairment. The developmental outcome may have improved in MMA patients, with IQ higher than 75 in about 40% patients aged more than 4 years. Conversely, poor intellectual development is the rule in PA patterns, with 60% having an IQ less than 75 and requiring special education. Successful liver and/or renal transplantations, in a few patients, have resulted in better quality of life but have not necessarily prevented neurological and various visceral complications. These results emphasize the need for permanent metabolic follow‐up whatever the therapeutic strategy.
Dominantly inherited hyperinsulinaemic hypoglycaemia
Authors: De Lonlay P. , Giurgea I. , Sempoux C. , Touati G. , Jaubert F. , Rahier J. , Ribeiro M. , Brunelle F. , Nihoul‐Fékété C. , Robert J.‐J. , Saudubray J.‐M. , Stanley C. , Bellanné‐Chantelot C. 
Published: April 2005

SummaryCongenital hyperinsulinism (HI), the most important cause of hypoglycaemia in early infancy, is a heterogeneous disease with two types of histological lesions, focal and diffuse, with major consequences in terms of surgical approaches. In contrast to focal islet‐cell hyperplasia, always sporadic to our knowledge, diffuse hyperinsulinism is a heterogeneous disorder involving several genes, various mechanisms of pathogenic mutations and different transmissions: (i) channelopathy involving the genes encoding the sulphonylurea receptor (SUR1) or the inward‐rectifying potassium channel (Kir6.2) in recessively inherited HI or more rarely dominantly inherited HI; (ii) metabolic disorders implicating the short‐chain L‐3‐hydroxyacyl‐CoA dehydrogenase (SCHAD) enzyme inrecessi‐vely inherited HI, the glucokinase gene (GK), the glutamate dehydrogenase gene (GLUD1) when hyperammonemia is associated, dominant exercise‐induced HI with still‐unknown mechanism, and more recently the human insulin receptor gene in dominantly inherited hyperinsulinism. Thus, dominant HI disorders always correspond to diffuse HI, where most hypoglycaemia occur in infancy, and are sensitive to medical treatment. Channel causes could be due to dominant negative mutation with one abnormality in channels composed of four Kir6.2 subunits and four SUR1 subunits, leading to a complete destruction of the channel structure or function, or due to haploinsufficiency with only one functional allele, leading to 50% of functional protein, which is not sufficient to obtain enough opened channels to maintain the membrane depolarized. Metabolic causes are due to a gain of function of enzyme activity (deregulated enzymes), except for physical exercise‐induced hyperinsulinaemic hypoglycaemia, of still‐unknown cause. Congenital hyperinsulinism (HI) is the most important cause of hypoglycaemia in early infancy (Aynsley‐Green et al 2000; Cornblath et al 1990; Pagliara et al 1973; Thomas et al 1977). The inappropriate oversecretion of insulin is responsible for profound hypoglycaemia that requires aggressive treatment to prevent severe and irreversible brain damage (Volpe 1995). HI is a heterogeneous disease associated with several genes, various mechanisms of pathogenic mutations and different transmissions (Dunne et al 2004).
Oligodendrocytes and stem cell transplantation: their potential in the treatment of leukoencephalopathies
Authors: Duncan I. D. 
Published: April 2005

SummaryCell transplantation is being extensively explored as a means of treating many human degenerative diseases. The leukodystrophies are examples of neurological disorders where new therapeutic strategies, either cellular or molecular, will be required to repair the central nervous system (CNS) of affected patients. Much hope is being pinned on the use of human embryonic stem (ES) cells as the exogenous source of neurons and glia to replace dysfunctional or dying cells in the CNS. In the case of leukoencephalopathies, the goal is to generate oligodendrocytes or other myelinating cells such as Schwann cells from ES cells, to myelinate or remyelinate CNS axons on transplantation. Experimental data suggests that mouse ES cells have this capacity, but at present differentiation of oligodendrocytes in sufficient numbers from human ES cells is not possible. It may in fact be more feasible to isolate oligodendrocytes from human neural stem cells derived from the fetal brain, but the source of these is in short supply and, like that of ES cells, is ethically controversial. None the less, it appears certain that either of these two sources will eventually give rise to sufficient numbers of neural stem cells or oligodendrocyte progenitors that have greater capacity for repair than such cells derived from the adult brain. Once the primary technical issues concerning human ES cell differentiation have been overcome, the most likely first clinical target will be Pelizaeus–Merzbacher disease. However, widespread dissemination of cells throughout the CNS may be required for functional improvement; hence diseases such as adrenoleukodystrophy may also be considered as therapeutic targets.
Peroxisome biogenesis disorders: The role of peroxisomes and metabolic dysfunction in developing brain
Authors: Faust P. L. , Banka D. , Siriratsivawong R. , Ng V. G. , Wikander T. M. 
Published: April 2005

SummaryPeroxisome biogenesis disorders, of which Zellweger syndrome is the most severe, result in severe neurological dysfunction associated with abnormal CNS neuronal migrations due to the lack of functional peroxisomes. The PEX2‐/‐ mouse model for Zellweger syndrome has enabled us to evaluate the role of peroxisomes in the development and functioning of the nervous system. These studies have shown that, in addition to disturbances in neuronal migration in developing cerebral cortex and cerebellum, defects in neuronal differentiation, proliferation and survival may also contribute to the CNS malformations. However, owing to the multiorgan dysfunction in peroxisomal disorders, it has been difficult to clearly define an intrinsic role for the peroxisome in brain cells. The use of several in vitro cell culture assays to evaluate the migration and differentiation of cerebellar neurons demonstrates a persistence of defects in peroxisome‐deficient neurons. The absence of potential systemically derived, extrinsic factors in these in vitro systems indicates that CNS intrinsic defects contribute to the pathogenesis of disease in these disorders. However, bile acid treatment also increases the survival and growth of PEX2‐/‐ mice and improves some aspects of cerebellar development, indicating that extrinsic factors also affect the developing peroxisome‐deficient brain. Therefore, the final phenotype of nervous system dysfunction in peroxisomal disorders will reflect a combination of both CNS intrinsic and extrinsic factors.
Molecular mechanisms of dominant expression in porphyria
Authors: Badminton M. N. , Elder G. H. 
Published: April 2005

SummarySummary:#Partial deficiency of enzymes in the haem synthetic pathway gives rise to a group of seven inherited metabolic disorders, the porphyrias. Each deficiency is associated with a characteristic increase in haem precursors that correlates with the symptoms associated with individual porphyrias and allows accurate diagnosis. Two types of clinical presentation occur separately or in combination; acute life‐threatening neurovisceral attacks and/or cutaneous symptoms. Five of the porphyrias are low‐penetrance autosomal dominant conditions in which clinical expression results from additional factors that act by increasing demand for haem or by causing an additional decrease in enzyme activity or by a combination of these effects. These include both genetic and environmental factors. In familial porphyria cutanea tarda (PCTF), environmental factors that include alcohol, exogenous oestrogens and hepatotropic viruses result in inhibition of hepatic enzyme activity via a mechanism that involves excess iron accumulation. In erythropoietic protoporphyria (EPP), co‐inheritance of a functional polymorphism in trans to a null ferrochelatase allele accounts for most clinically overt cases. In the autosomal dominant acute hepatic porphyrias (acute intermittent porphyria, variegate porphyria, hereditary coproporphyria), acute neurovisceral attacks occur in a minority of those who inherit one of these disorders. Although various exogenous (e.g. drugs, alcohol) and endogenous factors (e.g. hormones) have been identified as provoking acute attacks, these do not provide a full explanation for the low penetrance of these disorders. It seems probable that genetic background influences susceptibility to acute attacks, but the genes that are involved have not yet been identified.
Exposure to threat of war and terror, political attitudes, stress, and life satisfaction among teenagers in Israel☆
Authors: Shamai Michal , Kimhi Shaul 
Published: April 2005

ABSTRACTThe study examines the pattern of relations between level of threat, political attitude (willingness for political compromise), and well‐being (level of stress and life satisfaction) among Israeli teenagers in reaction to Israel's withdrawal from Lebanon. Participants were 419 teenagers from two residential areas: the Northern area (close to the Israeli–Lebanese border) and the Central area (distant from the border). The results show: (a) significant differences between the two groups on: political attitude (Center scored higher), on level of stress (North scored higher), and on life satisfaction (North scored lower); (b) a significant negative correlation between exposure to threat and political attitude; (c) significant negative correlations between political attitude and measures of stress, and a significant positive correlation with life satisfaction; (d) political attitude mediates between level of threat and well‐being. Political and educational implications, and mental health policy are discussed.
STORKS AND OSTRICHES: AN EARLY PARODY OF STRAUSS'S ‘ARIADNE AUF NAXOS’
Authors: Walton Chris 
Published: April 2005

The name of the conductor Max Conrad is hardly one to conjure with. He admitted as much himself in the first paragraph of his memoirs, published in 1956:
To be sure, I was born in Berlin, as was [Bruno Walter]; he attended the Askanische High School in Berlin – as did I; he left it without finishing his school leaving certificate – as did I; he studied music with teachers from the Stern Conservatory – as did I; and he soon became famous – and I … oh dear, now it becomes irregular, like a Greek verb …For more than 30 years, Conrad (1872–1963) played a major role in the operatic life of Zurich. In the greater scheme of things, this might perhaps be regarded as of little significance, for Zurich's was then but a theatre in the outer provinces of the German-speaking world. Nor did Conrad achieve recognition by conducting important premières there, as did other men (such as Robert F. Denzler, who conducted the world premières of Hindemith's Mathis der Maler and Berg's Lulu in the 1930s, or Hans Rosbaud, who conducted the staged première of Schoenberg's Moses und Aron in 1957). Conrad did train the flower maidens for the first (legal) performance of Wagner's Parsifal outside Bayreuth, given in Zurich in 1913 – but the première itself was conducted by the chief kapellmeister, Lothar Kempter. To be sure, Conrad did conduct the world première of the revised version of Othmar Schoeck's fine expressionist opera Penthesilea in 1928; but that is hardly enough to ensure anyone posthumous fame.
Silvestrov and Kancheli
Authors: Quinn Peter 
Published: April 2005

SILVESTROV: Silent Songs; Four Songs after Osip Mandelstam. Sergey Yakovenko (bar), Ilya Scheps, Valentin Silvestrov (pno). ECM New Series 982 1424.KANCHELI: Diplipito; Valse Boston. Thomas Demenga (vc), Derek Lee Ragin (counter-ten), Dennis Russell Davies (pno), Stuttgarter Kammerorchester c. Dennis Russell Davies. ECM New Series 472 0822.
Orientation and mode of lipid-binding interaction of human apolipoprotein E C-terminal domain
Authors: RAUSSENS Vincent , DRURY Jessica , FORTE Trudy M. , CHOY Nicole , GOORMAGHTIGH Erik , RUYSSCHAERT Jean-Marie , NARAYANASWAMI Vasanthy 
Published: April 2005

ApoE (apolipoprotein E) is an anti-atherogenic lipid transport protein that plays an integral role in lipoprotein metabolism and cholesterol homoeostasis. Lipid association educes critical functional features of apoE, mediating reduction in plasma and cellular cholesterol levels. The 10-kDa CT (C-terminal) domain of apoE facilitates helix–helix interactions in lipid-free state to promote apoE self-association and helix–lipid interactions during binding with lipoproteins, although the mode of lipid-binding interaction is not well understood. We investigated the mode of lipid-binding interaction and orientation of apoE CT domain on reconstituted lipoproteins. Isolated recombinant human apoE CT domain (residues 201–299) possesses a strong ability to interact with phospholipid vesicles, yielding lipoprotein particles with an apparent molecular mass of ∼600 kDa, while retaining the overall α-helical content. Electron microscopy and non-denaturing PAGE analysis of DMPC (dimyristoylphosphatidylcholine)–apoE CT domain lipoprotein complexes revealed discoidal complexes with a diameter of approx. 17 nm. Cross-linking apoE CT domain on discoidal particles yielded dimeric species as the major product. Attenuated total reflectance Fourier transform IR spectroscopy of phospholipid–apoE CT domain complexes reveals that the helical axis is oriented perpendicular to fatty acyl chains of the phospholipid. Fluorescence quenching analysis of DMPC–apoE CT domain discoidal complexes by spin-labelled stearic acid indicated a relatively superficial location of the native tryptophan residues with respect to the plane of the phospholipid bilayer. Taken together, we propose that apoE CT domain interacts with phospholipid vesicles, forming a long extended helix that circumscribes the discoidal bilayer lipoprotein complex.
Inhibitory effect of palmitate on the mitochondrial NADH:ubiquinone oxidoreductase (complex I) as related to the active–de-active enzyme transition
Authors: LOSKOVICH Maria V. , GRIVENNIKOVA Vera G. , CECCHINI Gary , VINOGRADOV Andrei D. 
Published: April 2005

Palmitate rapidly and reversibly inhibits the uncoupled NADH oxidase activity catalysed by activated complex I in inside-out bovine heart submitochondrial particles (IC50 extrapolated to zero enzyme concentration is equal to 9 μM at 25 °C, pH 8.0). The NADH:hexa-ammineruthenium reductase activity of complex I is insensitive to palmitate. Partial (∼50%) inhibition of the NADH:external quinone reductase activity is seen at saturating palmitate concentration and the residual activity is fully sensitive to piericidin. The uncoupled succinate oxidase activity is considerably less sensitive to palmitate. Only a slight stimulation of tightly coupled respiration with NADH as the substrate is seen at optimal palmitate concentrations, whereas complete relief of the respiratory control is observed with succinate as the substrate. Palmitate prevents the turnover-induced activation of the de-activated complex I (IC50 extrapolated to zero enzyme concentration is equal to 3 μM at 25 °C, pH 8.0). The mode of action of palmitate on the NADH oxidase is qualitatively temperature-dependent. Rapid and reversible inhibition of the complex I catalytic activity and its de-active to active state transition are seen at 25 °C, whereas the time-dependent irreversible inactivation of the NADH oxidase proceeds at 37 °C. Palmitate drastically increases the rate of spontaneous de-activation of complex I in the absence of NADH. Taken together, these results suggest that free fatty acids act as specific complex I-directed inhibitors; at a physiologically relevant temperature (37 °C), their inhibitory effects on mitochondrial NADH oxidation is due to perturbation of the pseudo-reversible active–de-active complex I transition.