bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hereditary Spastic Paraplegia: Clues from a Rare Disorder for a Common Problem?
Authors: Burgunder Jean‐Marc , Hunziker Walter 
Published: May 2004

AbstractHereditary spastic paraplegia is a rare disorder with gait disturbance due to a degeneration of the corticospinal tract, sometimes accompanied by involvement of other systems. Out of the 20 loci known so far, eight genes have now been identified, allowing the first molecular and cell studies in the pathophysiology of the disorder. These should also help to understand the function of the corticospinal tract at the molecular level and design strategies to prevent and treat spasticity due to more common causes. The proteins encoded by these genes play a role in development, in signal transduction between axons and myelinating cells, in cellular, particularly axonal trafficking or in energy metabolism. Some of them have actions in several areas of cellular function. Here we review the present knowledge about the genes involved in hereditary spastic paraplegia, a field presently undergoing rapid change. IUBMB Life, 55: 347‐352, 2003
Nitric Oxide and Reactive Oxygen Species in Parkinson's Disease
Authors: Tieu Kim , Ischiropoulos Harry , Przedborski Serge 
Published: May 2004

AbstractParkinson's disease is a neurodegenerative disorder of unknown pathogenesis. Oxidative stress has been proposed as one of several pathogenic hypotheses. Evidence for the participation of oxidative processes in the pathogenesis of Parkinson's disease have been obtained in the 1‐methyl‐4‐phenyl‐1,2,3,6‐tetrahydropyridine (MPTP) model by the use of genetically altered mice. MPTP administration has been shown to increase levels of superoxide both intracellularly, via the inhibition of mitochondrial respiration and other mechanisms and extracellularly, via the activation of NADPH‐oxidase in microglia. In addition to superoxide, nitric oxide production by nNOS or by microglial iNOS also contributes to the MPTP neurotoxocity. Mice with endowed defences against superoxide or with deficiency in the nNOS and iNOS are protected from MPTP toxicity suggesting that formation of reactive oxygen and nitrogen intermediates both intracellularly and extracellularly contributes to the demise of dopaminergic neurons. Similar contribution of reactive nitrogen and oxygen species may well underlie the neurodegenerative processes in Parkinson's disease. IUBMB Life, 55: 329‐335, 2003
Polyglutamine Diseases and Molecular Chaperones
Authors: Kimura Yoko , Kakizuka Akira 
Published: May 2004

AbstractThe polyglutamine diseases, a group of diseases currently thought to consist of nine inherited neurodegenerative diseases, are caused by the expansion of unstable CAG trinucleotide repeats that code for polyglutamine tracts in the responsible genes. These diseases are now recognized as being of a type with conformationally abnormal or amyloid‐related proteins, and thus are called 'conformational diseases'. Recently, many studies using cell cultures and model organisms have suggested that the two major machineries for protein quality control (the molecular chaperone and the protein degradation machineries) play important roles in the pathogenesis of the polyglutamine diseases. Interestingly, molecular chaperones have been shown to behave in totally different ways in these studies, namely in suppressing as well as enhancing neurodegeneration or cell death. These apparently opposite actions of molecular chaperones suggest that a certain balance between the activities of molecular chaperones and the expression level of polyglutamine is an important determinant of the pathogenesis. In this review, we summarize recent findings on such ambiguous effects of molecular chaperones on polyglutamine diseases, and discuss possible mechanisms by which molecular chaperones, especially VCP, are involved in the pathogenesis. IUBMB Life, 55: 337‐345, 2003
The Neuropathological Spectrum of Neurodegenerative Tauopathies
Authors: Tolnay Markus , Probst Alphonse 
Published: May 2004

AbstractAbundant neurofibrillary lesions made of abnormal and hyperphosphorylated microtubule‐associated protein tau constitute one of the defining neuropathological features of Alzheimer's disease. However, tau containing filamentous deposits in neurons and/or glial cells also define a heterogeneous group of neurodegenerative disorders clinically characterized by dementia and/or motor syndromes. Thus, all these disorders are collectively grouped under the generic term of tauopathies. In the present review we outline the morphological and biochemical characteristics of some major tauopathies, including Alzheimer's disease, Pick's disease, progressive supranuclear palsy, corticobasal degeneration and argyrophilic grain disease. The second part will deal with the recent discovery of tau gene mutations in frontotemporal dementia and parkinsonism linked to chromosome 17 which demonstrates that tau dysfunction can lead to neurodegeneration. Finally, we will discuss the very recent finding of 'tau‐deficient' tauopathy in a subset of frontotemporal dementia cases. IUBMB Life, 55: 299‐305, 2003
Hemochromatosis mutations are not linked to dilated cardiomyopathy in Israeli patients
Authors: Goland Sorel , Beilinson Nick , Kaftouri Avinoam , Shimoni Sara , Caspi Abraham , Malnick Stephen D.H. 
Published: May 2004

AbstractAims.Hemochromatosis is a condition in which iron loading impairs the function of many organs, including the heart. Congestive heart failure with left ventricular dilatation is commonly found in patients with hemochromatosis. Two missense mutations (C282Y and H63D) have been shown to be responsible for the majority of cases of hemochromatosis.Methods and results.We examined 156 patients with congestive heart failure due to dilated cardiomyopathy. Details were recorded of clinical and echocardiographic parameters. DNA was extracted from peripheral blood and checked for the presence of the C282Y and H63D mutations by a commercially available single nucleotide primer extension assay. A control group of 98 healthy blood donors was also checked for the presence of these mutations. Of the 157 patients, 42 (26.75%) had at least one mutation. Five (3.65%) were homozygotic for the H63D mutation and 37 (23.6%) were heterozygotic for the H63D mutation. The C282Y mutation was not present. In a control population of 98 healthy blood donors, 27 (27.6%) were heterozygous for the H63D population and none had the C282Y mutation (no significant difference between the patients with cardiomyopathy and the healthy blood donors, χ2 test 0.754). There was a non‐significant trend to a difference in the prevalence of homozygotic H63D between the cardiomyopathy patients and the healthy blood donors (3.18% vs. 0%, P=0.076, χ2 test). There was no statistically significant difference between the cardiomyopathy patients with and without the mutations in terms of age, gender, hemoglobin, iron, transferrin, ferritin, presence of diabetes mellitus, hypertension and previous coronary artery bypass grafting.Conclusion.In our population of patients with dilated cardiomyopathy, there was no evidence for hemochromatosis being an important etiology.
Impact of atrial fibrillation on mortality and readmission in older adults hospitalized with heart failure
Authors: Ahmed Ali , Thornton Phillip , Perry Gilbert J. , Allman Richard M. , DeLong James F. 
Published: May 2004

AbstractBackground:Atrial fibrillation is common in older adults with heart failure. It is known to adversely affect outcomes.Aim:To examine the associations of atrial fibrillation with 4‐year mortality and 30‐day readmission in older adults hospitalized with heart failure.Methods:Patients were Medicare beneficiaries 65 years of age and older discharged with a primary diagnosis of heart failure. Baseline data were obtained by retrospective chart reviews and data on mortality and readmission were obtained from Medicare administrative files. Presence of atrial fibrillation was confirmed using electrocardiogram during hospital admission. Using Cox proportional hazards models we estimated bivariate and multivariable (adjusted for various patient and care covariates) hazards ratios (HR) and 95% confidence intervals (CI) for 4‐year mortality and 30‐day readmission of patients with atrial fibrillation compared with those without.Results:Patients (n=944) had a mean age (±S.D.) of 79 (±7) years, 61% were women, 18% African–Americans, 25% had atrial fibrillation by admission electrocardiogram, 64% died within 4 years, and 8% were readmitted. Patients with atrial fibrillation had a 52% increased risk of 4‐year mortality (adjusted HR=1.52; 95%CI=1.11–2.07). Atrial fibrillation was also associated with higher risk of readmission (unadjusted HR=1.64; 95%CI=1.01–2.68). However, the association lost its statistical significance after adjustment for various patient and care variables (adjusted HR=2.09; 95%CI=0.94–4.65).Conclusion:Presence of atrial fibrillation was associated with significant increased risk of long‐term mortality in older adults hospitalized with heart failure and was associated with a non‐significant higher risk of hospital readmission.
Living with advanced heart failure: a prospective, community based study of patients and their carers
Authors: Boyd Kirsty J. , Murray Scott A. , Kendall Marilyn , Worth Allison , Benton T. Frederick , Clausen Hans 
Published: May 2004

AbstractBackground:Services for people with heart failure are under‐developed. The perspectives of patients, their informal and professional carers should inform development of service models.Aim:To describes how patients and carers view health and social care in the last year of life.Methods:Qualitative, serial interviews at three monthly intervals with 20 patients (New York Heart Association Grade IV heart failure), their main informal carer, general practitioner and other key professionals in an urban, community setting in SE Scotland. These were tape‐recorded, and analysed with the aid of the qualitative data analysis package NVivo and techniques of narrative analysis.Results:112 interviews comprised; patients (50), informal carers (27), professionals (30), bereavement interviews (5). Patients with heart failure and their carers felt unsupported by services, and had little understanding of their condition, treatment aims or prognosis. Quality of life was severely compromised by physical limitations and psychological morbidity. Psychosocial care, patient and carer education, co‐ordination of care between primary and secondary sectors and with social services was generally poor. Many patients had no access to a heart failure nurse specialist. A palliative care approach was rarely apparent.Conclusions:Patients with advanced heart failure may benefit from specific models of care with strategic planning across primary and secondary care, and involvement of health and social care services and specialist palliative care providers. Models of care, which focus on quality of life, symptom control, and psychosocial support for patients and their families while continuing active treatment, should be developed.
Heart failure—the importance of ethnicity
Authors: Sosin Michael D. , Bhatia Gurbir S. , Davis Russell C. , Lip Gregory Y.H. 
Published: May 2004

AbstractHeart failure is a major public health problem in the Western world. Aetiological factors involved in its development include hypertension, diabetes, and ischaemic heart disease—all of which differ in prevalence, and possibly mechanism, between patients of differing ethnicity. Unfortunately, epidemiological and therapeutic trials have involved almost exclusively white populations, and evidence from these trials cannot necessarily be assumed to be generalisable to populations that include high proportions of patients from other ethnic origins. This review will discuss the mechanistic and therapeutic differences that exist in heart failure between those of European origin, and patients from the major ethnic minority groups of the UK.
The effect of dietary sodium restriction on neurohumoral activity and renal dopaminergic response in patients with heart failure
Authors: Alvelos Margarida , Ferreira António , Bettencourt Paulo , Serrão Paula , Pestana Manuel , Cerqueira‐Gomes Mário , Soares‐da‐Silva Patrício 
Published: May 2004

AbstractBackground:This work evaluates the effect of a low‐sodium diet on clinical and neurohumoral parameters and on renal dopaminergic system activity in heart failure (HF) patients.Methods:We included 24 patients with mild‐to‐moderate stable HF with left ventricle ejection fraction <40%. Twelve patients were studied before and after a 15‐day low‐sodium diet; 12 maintained their usual diet. Serum sodium and creatinine, plasma l‐DOPA, dopamine, its metabolites, BNP and aldosterone, and 24‐h urinary sodium, creatinine, l‐DOPA, dopamine and metabolites were measured.Results:The two groups were matched respecting to demographic and clinical parameters. Low‐sodium diet caused significant reductions in weight, 24‐h urinary volume and sodium and sodium fractional excretion. Renal delivery of l‐DOPA and urinary excretion of l‐DOPA significantly decreased while dopamine and metabolites were not affected. Urinary dopamine/l‐DOPA and urinary dopamine/renal delivery of l‐DOPA ratios increased, plasma l‐DOPA decreased and plasma dopamine increased. Plasma aldosterone slightly rose, BNP decreased and noradrenaline and adrenaline increased. NYHA functional class was not affected by sodium restriction. Controls showed no differences.Conclusions:These results suggest that sodium restriction leads to activation of antinatriuretic antidiuretic systems in HF patients. However, renal ability to synthesize dopamine is increased in this condition, probably as a counter‐regulatory mechanism.
Comparison of treatment initiation with bisoprolol vs. enalapril in chronic heart failure patients: rationale and design of CIBIS‐III
Authors: Willenheimer Ronnie , Erdmann Erland , Follath Ferenc , Krum Henry , Ponikowski Piotr , Silke Bernard , van Veldhuisen Dirk J. , van de Ven Louis , Verkenne Patricia , Lechat Philippe ,   on behalf of the CIBIS‐III investigators
Published: May 2004

AbstractBackground:Angiotensin‐converting‐enzyme (ACE) inhibitors and β‐blockers are standard therapy for chronic heart failure (CHF). β‐blockers are recommended to be initiated after ACE‐inhibitors, but this order is not evidence based. The initiation order may be important since many, especially elderly CHF patients cannot tolerate target doses of both. Data suggest that β‐blockers may be more important to CHF patients than ACE‐inhibitors, especially in early stages of CHF.Aims:To compare the effect on combined death or hospitalisation of initial monotherapy with either bisoprolol or enalapril, followed by combination therapy.Methods:One‐thousand CHF patients without ACE‐inhibitor, β‐blocker or angiotensin‐receptor‐blocker therapy will be randomised 1:1 to monotherapy with either enalapril or bisoprolol for 6 months, followed by combined therapy for 6–18 months. The primary objective is to show non‐inferiority for bisoprolol‐first vs. enalapril‐first regarding combined death or hospitalisation. If that is shown, superiority for bisoprolol‐first will be tested.Conclusions:If the trial shows non‐inferiority for bisoprolol‐first vs. enalapril‐first, the first CHF therapy may be chosen based on individual judgement in each patient. If bisoprolol‐first is superior to enalapril‐first, a β‐blocker should be given prior to an ACE‐inhibitor in CHF, and the paradigm of testing CHF compounds against a background of ACE‐inhibitor therapy will be challenged.
Cardiac rotation and relaxation in patients with chronic heart failure
Authors: Fuchs Esther , Müller Markus F. , Oswald Helmut , Thöny Harriet , Mohacsi Paul , Hess Otto M. 
Published: May 2004

AbstractBackground:The normal left ventricle shows a systolic wringing motion with clockwise rotation at the base and counterclockwise rotation at the apex.Purpose:The aim of the present study was (1) to assess left ventricular (LV) contraction and relaxation in patients with chronic heart failure (CHF), and (2) to evaluate the effect of medical therapy on LV contraction–relaxation behavior.Methods:Magnetic resonance was used to examine LV motion by labeling specific LV regions in three planes (myocardial tagging). Twenty‐three subjects were included, nine healthy controls and 14 CHF patients. Cardiac motion was determined from the deformation of a rectangular grid in a basal and apical plane. CHF patients were put on triple therapy with ACE‐inhibitors, β‐blockers and spironolactone. Follow‐up examination (n=9) was performed after 6 months.Results:In controls, systolic rotation was −9.5±2° at the base and +3.3±1° at the apex. In CHF patients, rotation was reduced both at the base (−3.4±2°, P<0.01) and the apex (+0.9±3°, P<0.05). Similarly, regional ejection fraction (REF) was reduced in CHF patients both at the base and the apex. Medical therapy was associated with an improvement in REF, but systolic rotation improved only at the base (−4.6±2°, P<0.05).Conclusions:Systolic wringing motion with clockwise rotation at the base and counterclockwise rotation at the apex is maintained in CHF although reduced. Heart failure treatment is associated with an improvement in REF, whereas rotation improved only at the base, but not at the apex. Thus, there is an uncoupling between regional shortening and rotation in CHF patients.
Diastolic heart failure. Paroxysmal or chronic?
Authors: Banerjee Prithwish , Clark Andrew L. , Nikitin Nikolay , Cleland John G.F. 
Published: May 2004

AbstractHeart failure with preserved systolic function is considered by some to be synonymous with diastolic heart failure (DHF). Although recent epidemiological studies have suggested that DHF constitutes 30–50% of all patients with heart failure, many cardiologists dealing with ambulant heart failure patients on a daily basis find that the vast majority of heart failure patients have systolic dysfunction. What could be the reasons for this? Referral bias and varying diagnostic thresholds and interpretation of results could be one important reason. Heart failure with preserved systolic function comprises a heterogeneous group of conditions: whilst some patients may truly have DHF, others may have heart failure due to subtle systolic dysfunction (noted on tissue Doppler imaging of the left ventricular long axis). Other patients actually have pulmonary disease, obesity or ischaemic heart disease, and have their symptoms attributed to ‘diastolic heart failure’ on the basis of ‘abnormal’ mitral diastolic flow indices that may, in fact, simply reflect aging. True DHF may be much less prevalent than suggested. A further possibility is that heart failure in patients with diastolic dysfunction might be paroxysmal rather than chronic. This group of patients may present predominantly to acute units like accident and emergency, coronary care units and intensive care units and are, therefore unlikely to figure prominently in the usual outpatient population of chronic systolic left ventricular dysfunction.
Strength, Sharing and Service: Restorying and the legitimation of research texts
Authors: MULHOLLAND JUDITH , WALLACE JOHN 
Published: May 2004

AbstractThis article uses data from a longitudinal qualitative research project exploring the experiences of elementary teachers as they both learnt and taught science in the transition from a pre‐service to an in‐service situation. Interviews, journal entries and observations were the original data sources from which case studies were derived by narrative analysis. The material used in this article concerns a single participant. The purpose is to examine a narrative device, restorying, and explore its usefulness as a way of enhancing legitimation in narrative inquiry. Three sets of criteria for legitimation of qualitative studies are suggested; a set that requires research to be conducted in ways that provide evidence of thoroughness and fairness; a set that allows the reader to experience vicariously the world of the participants; and a set concerned with the ways in which education is enhanced for researcher, participants and reader. The authors suggest that a single text cannot fully satisfy all of these criteria sets but that by using multiple tellings or restorying, the legitimation of findings in qualitative research can be enhanced.
Social Class, Ability and Choice of Subject in Secondary and Tertiary Education in Britain
Authors: VAN DE WERFHORST HERMAN G. , SULLIVAN ALICE , CHEUNG SIN YI 
Published: May 2004

AbstractThis article examines the impact of family background (social class, cultural and economic capital) and ability on the choice of subjects in secondary and tertiary education in Britain. Using a framework that integrates rational choice perspectives and cultural reproduction theory, we assume that children take their parents' social position as a reference for their own choices, and are guided mainly by the amount of economic and cultural capital that is available within the family. Using longitudinal data from the 1958 British birth cohort (N =13,245), the empirical analysis shows that children from higher social class backgrounds achieved a higher standard in both humanities and scientific subjects in primary and secondary school. Furthermore, children of the professional class were relatively likely to choose the prestigious subjects of medicine and law in university, independent of ability. Both absolute and relative levels of ability were relevant to the choice of subject at degree level, as it was found that people chose subjects that they were relatively good at compared to other subjects. This concept of ‘comparative advantage’ gives additional insight into field‐of‐study choices, but does not explain the gender segregation across disciplines.
What's in a Trend? A Comment on Gray, Goldstein and Thomas (2001), ‘Predicting the Future: The role of past performance in determining trends in institutional effectiveness at A level’
Authors: PUGH GEOFF , MANGAN JEAN 
Published: May 2004

AbstractGray et al. (British Educational Research Journal, 27, 2001, p. 391) present evidence that ‘predicting future “value added” performance from past trends is unreliable’. This note argues that the authors treat the notion of trend in an unproblematic manner; namely, as deterministic time trends. Yet the movements in the data identified by the authors as school improvement trends may not be generated by the deterministic process they assume. Instead, these upward and downward movements may reflect a purely stochastic (i.e. random) process or, at least, a process that allows for both stochastic and deterministic elements. In either case, once we treat the notion of trend as problematic, we have to allow for the possibility of a purely random element in school improvement data that is greater than even the authors suggest. Accordingly, the implications of this discussion enhance rather than detract from the authors' findings on the weakness of improvement trajectories and the unreliability of using them to predict future results.
Of Trends and Trajectories: Searching for patterns in school improvement
Authors: GRAY JOHN , GOLDSTEIN HARVEY , THOMAS SALLY 
Published: May 2004

AbstractThe article builds on earlier research suggesting that it is fairly difficult to extrapolate current trends in school performance into the future (see Gray, Goldstein & Thomas, British Educational Research Journal, 27, 2001). It explores two areas of research on school improvement which have, to date, received relatively little attention—trends in performance over time and the incidence of time‐lagged phenomena. In responding to a critique by Pugh and Mangan (2002), it suggests that, whilst of interest, time‐trend analyses favoured by economists may be less useful than other forms of analysis which search for consistent patterns over shorter periods of time. Some strategies for thinking about their identification are put forward. The implications of these approaches for target‐setting and related exercises, which are premised on linear assumptions about school improvement, are also discussed.