bluuebunny/crossref_metadata_2025_split huggingface dataset:
CASE REPORT: CblC/D defect combined with haemodynamically highly relevant VSD
Authors: Tomaske M. , Bosk A. , Heinemann M. K. , Sieverding L. , Baumgartner E. R. , Fowler B. , Trefz F. K. 
Published: December 2002

AbstractAn infant with combined methylmalonic aciduria and homocystinuria (cblC/D defect) presented with significant VSD. She underwent successful cardiac surgery at 53 days.
Effects of dietary cholesterol restriction in a feline model of Niemann–Pick type C disease
Authors: Somers K. L. , Brown D. E. , Fulton R. , Schultheiss P. C. , Hamar D. , Smith M. O. , Allison R. , Connally H. E. , Just C. , Mitchell T. W. , Wenger D. A. , Thrall M. A. 
Published: December 2002

AbstractA feline model of Niemann–Pick disease type C (NPC) was employed to evaluate the effect of dietary cholesterol restriction on progression of disease. Two NPC‐affected treated cats were fed a cholesterol‐restricted diet beginning at 8 weeks of age; the cats remained on the diet for 150 and 270 days respectively. The study goal was to lower the amount of low density lipoprotein (LDL) available to cells, hypothetically reducing subsequent lysosomal accumulation of unesterified cholesterol and other lipids. Neurological progression of disease was not altered and dietary cholesterol restriction did not significantly decrease storage in NPC‐affected treated cats. One NPC‐affected treated cat had decreased serum alkaline phosphatase activity (ALP) and decreased serum cholesterol concentration. Liver lipid concentrations of unesterified cholesterol, cholesterol ester and phospholipids in NPC‐affected treated cats were similar to those seen in NPC‐affected untreated cats. Ganglioside concentrations in the NPC‐affected treated cats and NPC‐affected untreated cats were similar. Histological findings in liver sections from NPC‐affected treated cats showed a diffuse uniform microvacuolar pattern within hepatocytes and Kupffer cells, in contrast to a heterogeneous macro/microvacuolar pattern and prominent nodular fibrosis in NPC‐affected untreated cats. Similar differences in vacuolar patterns were seen in splenic macrophages. Although some hepatic parameters were modified, dietary cholesterol restriction did not appear to alter disease progression in NPC‐affected kittens.
Clinical course and biochemistry of sialuria
Authors: Enns G. M. , Seppala R. , Musci T. J. , Weisiger K. , Ferrell L. D. , Wenger D. A. , Gahl W. A. , Packman S. 
Published: December 2002

AbstractSialuria is a rare inborn error of metabolism in which excessive free sialic acid (N‐acetylneuraminic acid, NeuAc) is synthesized. A defect in the feedback inhibition of UDP‐N‐acetylglucosamine (UDP‐GlcNAc) 2‐epimerase by the end‐product of the sialic acid synthetic pathway, CMP‐NeuAc, is the mechanism underlying this overproduction. Recent evidence suggests that sialuria is an autosomal dominant disorder. Only five patients have been documented to have such an enzymatic defect. We report a longitudinal study of one of the original sialuria patients, to age 11 years. Although he has coarse features and massive hepatomegaly, he has shown normal growth and relatively normal development. Pulmonary function testing showed minimal small airway obstruction. At 11 years, he developed intermittent abdominal pain and transient transaminase elevation above his baseline. Sialuria should be considered in the differential diagnosis of a patient with a phenotype suggestive of a mucopolysaccharidosis or oligosaccharidosis in the absence of developmental regression or prominent dysostosis multiplex. We recommend close monitoring of liver and pulmonary function in sialuria patients.
Negative Social Dialogue versus Positive Social Dialogue
Authors: Lafoucriere Céline 
Published: December 2002

This paper draws upon research exploring progress in achieving the ‘adaptability pillar’ of the 1997 European Employment Strategy. Using two national case studies, France and Belgium, it explores two highly different traditions and conceptions of social partnership, introducing ideas of ‘negative’ and ‘positive’ social dialogue, and arguing for the necessity of the latter for attaining significant progress. The paper highlights the value of such a typology as a useful analytical tool in the continuing development of social partnership and a healthy European Employment Strategy. ‘There is nothing more difficult to devise, where success is less assured and implementation more difficult to achieve, than the creation of a new system’ (Machiavelli, The Prince, 1563).
Coordination of Social Security: Developments in the Area of Posting
Authors: Van Zeben Maarten , Donders Peter 
Published: December 2002

In this article we ask what has changed since 1995 with regard to the implementation of posting rules. In order to answer this question, the article examines a number of aspects of posting that relate primarily to the implementation of the rules: – administrative procedures and how they have been affected by the Fitzwilliam case; – the interpretation of Article 14 (2)(b); – the use of Article 17; – the position of self-employed persons following the Banks case. Our considerations are based on the results of investigations by BMT consultants that were conducted in 1995 and 1996, and on a recently conducted survey of the Dutch competent institution for posting, the Sociale Verzekeringsbank. Finally, we look at what has changed and whether the challenge inherent in current mobility developments can be met using our present posting rules
Are there useful biochemical markers of disease activity in lysosomal storage diseases?
Authors: Winchester B. 
Published: December 2002

AbstractThe primary biochemical consequence of a defect in a gene encoding a functional component of the lysosomal system is disruption of the catabolism or processing of macromolecules in the lumen of the lysosome. Transport of the resulting digestion products through the lysosomal membrane may also be affected. This leads to the accumulation of specific metabolites within the lysosomes of affected cells. The nature of these storage products depends upon the functional protein affected and the cell type. The accumulation of storage products is progressive and leads to hypertrophy of the lysosomal system, the hallmark of lysosomal storage diseases (LSDs).Subsequent cell necrosis or, possibly, exocytosis results in the appearance in body fluids of the storage products and components of the lysosomes at much higher concentrations than seen in normal unaffected individuals. Measurement of these increased levels of metabolites and proteins provides disease‐specific and generic biochemical markers for LSDs. Secondary changes in metabolism and cellular function may also produce characteristic changes in the levels of metabolites or proteins, which can also be used as markers of the disease process. Although the rate of appearance of these biochemical markers in an individual will depend upon the underlying mutation in the gene and on other genetic and environmental factors, it provides a good indicator of the progression of the disease. As the novel forms of treatment being developed may reverse the hypertrophy of the lysosomal system, biochemical markers could also be used to monitor the reversal of pathology and the efficacy of treatment.
Phenotype variability in 130 adult patients with respiratory chain disorders
Authors: Finsterer J. , Jarius C. , Eichberger H. , Jaksch M. 
Published: December 2002

AbstractDespite continuously improving diagnostic facilities, respiratory chain disorders (RCDs) are easily overlooked or misdiagnosed. We thus studied phenotype variability and the diagnostic pootential of clinical and laboratory investigations in patients with RCD. We retrospectively evaluated clinical and laboratory investigations in 130 patients with RCD: 63 women and 67 men, aged 17–87 years, diagnosed between January 1992 and December 1999. mtDNA mutations were found in 20 patients; a respiratory chain defect but no mutation in 4; an abnormal lactate stress test but no mutation or biochemical defect in 66; and ragged‐red fibres or reduced oxidative enzyme staining but no mutation, biochemical defect or abnormal lactate stress test in 40 patients. The most frequent initial manifestation of RCD were limb weakness, muscle pain and sensory disturbances. The most frequent clinical findings at diagnosis were muscle pain, fatiguability, limb weakness, reduced tendon reflexes and muscle wasting, irrespective of the diagnostic evidence. Mean age at onset, disease duration and time until diagnosis were 39, 14 and 13 years, respectively, without sex differences. The family history was positive in 29% of the patients. Hyperlipidaemia was found in 45%, hyper‐CK‐aemia in 42%, short stature in 33%, thyroid dysfunction in 17%, diabetes in 12%, and epilepsy in 8% of the patients. Laboratory investigations that prove useful to support the diagnosis of RCD are muscle biopsy, electromyography, lactate stress testing, echocardiography and mtDNA analysis. Systems most often involved in RCDs were the PNS, CNS, endocrine system and heart. The diagnosis of RCD requires awareness of the great phenotypic heterogeneity and an individualized, integral, multidisciplinary approach.
Cardiac manifestations in Fabry disease
Authors: Linhart A. , Lubanda J.‐C. , Palecek T. , Bultas J. , Karetová D. , Ledvinová J. , Elleder M. , Aschermann M. 
Published: December 2002

AbstractFabry disease is an X‐linked recessive genetic disorder of glycosphingolipid metabolism, due to deficiency of the lysosomal enzymeα‐galactosidase A. The disease is characterized by the progressive intracellular lysosomal accumulation of neutral glycosphingolipids throughout the body, including the cardiovascular system.It has been reported that cardiac involvement could be the sole manifestation of the disease in some patients. Myocardial abnormalities are characterized mainly by left ventricular (LV) wall thickening without significant cavity dilatation, the most frequent abnormal structural pattern being concentric LV hypertrophy (LVH). In some patients the disease mimics a typical hypertrophic obstructive cardiomyopathy. According to our experience, systolic function is largely preserved in a large majority of affected individuals. In contrast, mild to moderate impairment of diastolic filling is a relatively common finding, representing probably the most important cause of dyspnoea in patients with Fabry disease. However, in a relatively large population of affected patients, severe diastolic dysfunction, typical of restrictive cardiomyopathy, was not found. Valvular structural abnormalities are frequent due to valvular infiltration. In several patients, hypertrophy of papillary muscles and/or systolic anterior motion of the mitral leaflets associated with LV outflow obstruction may aggravate the mitral valve dysfunction. We did not confirm the previously reported high prevalence of mitral valve prolapse. Valvular regurgitation seems to be relatively frequent but mostly non‐significant. Electrocardiographic changes in Fabry disease are multiple and include at rioventricular (AV) conduction abnormalities (abbreviation of the P‐R interval or AV blocks), signs of LVH and repolarization abnormalities. Our observations suggest that conduction defects and repolarization changes are present predominantly in subjects with LV structural abnormalities. Cardiac symptoms inpatients with Fabry disease include shortness of breath on effort (related to LV diastolic dysfunction), vasospastic and/or exertional angina pectoris (due to LVH, endothelial dysfunction and/or fixed coronary artery stenosis) and syncope (related to AV blocks or LV outflow obstruction). The extent of cardiac involvement, in particular LV mass assessment, could represent an ideal surrogate endpoint for evaluating the efficacy of specific therapies.
Delayed lysosomal metabolism of lipids in mucolipidosis type IV fibroblasts after LDL‐receptor‐mediated endocytosis
Authors: Jansen S. M. , Groener J. E. M. , Bax W. , Poorthuis B. J. H. M. 
Published: December 2002

AbstractWe specifically probed the low‐density lipoprotein‐receptor‐dependent endosomal/lysosomal pathway of lipid degradation in control and mucolipidosis type IV fibroblasts using either [choline‐methyl‐14C]sphingo‐myelin in complex with apolipoprotein E, or cholesteryl [14C]oleate‐labelled low‐density lipoprotein as a substrate. Mucolipidosis type IV fibroblasts metabolized [14C]sphingomyelin and cholesteryl [14C]oleate significantly more slowly than controls and fibroblasts from patients with Hurler disease or Niemann–Pick disease type C. So far, no lysosomal enzyme deficiency has been reported for mucolipidosis type IV. Rather, the defect in mucolipidosis type IV cells has recently been suggested to be related to intracellular trafficking. Our results suggest that the defect in mucolipidosis type IV also affects the low‐density lipoprotein‐receptor‐mediated endocytosis pathway.
The Role of Life Stress and Social Support in the Adjustment of Sexually Victimized Pregnant and Parenting Minority Adolescents
Authors: Osborne Lori N. , Rhodes Jean E. 
Published: December 2002

AbstractAssociations among sexual victimization and the psychosocial functioning of African American and Latina pregnant and parenting adolescents were examined. Forty‐seven (17.7%) of the 265 participants reported histories of sexual victimization, most of which was unwanted sexual intercourse. The victimized adolescents reported higher levels of depression, anxiety, and life stress and, although the two groups reported no differences in their levels of social support, support was found to be differentially related to depression and anxiety in the two groups. In particular, victims derived benefits from social support at low levels of stress, but social support provided no protection against depression and anxiety at average or high levels of stress. For nonvictims, social support provided no benefits at low levels of stress, but protected against depression and anxiety at moderate levels of stress and against depression at high levels of stress. Implications of these findings for research, theory, and intervention are discussed.
Compulsory hyperventilation and hypocapnia of patients with Leigh syndrome associated with SURF1 gene mutations as a cause of low serum bicarbonates
Authors: Pronicka E. , Piekutowska‐Abramczuk D. H. , Popowska E. , Pronicki M. , Karczmarewicz E. , Sykut‐Cegielskâ Y. , Taybert J. 
Published: December 2002

AbstractExperimental data show that elevation of intracellular pH leads to severe lesions of brain cells. Acidification of intracellular fluid by accumulation of lactate may compensate the effect of respiratory alkalosis. Increased serum pH, and low PCO2, associated with hyperlactataemia (sometimes incorrectly called ‘acidosis’) have been reported in children with Leigh syndrome (LS).The aim of the study was to determine whether respiratory alkalosis is characteristic of patients with LS due to SURF1 mutations. All venous blood gas data (88 samples) of 18 spontaneously breathing LS patients with recently established SURF1 mutations, hospitalized during 1986–2000, were retrospectively reviewed. The data of an affected boy who survived on a respirator for more than 3 months (79 daily samples) were analysed separately.In spontaneously breathing patients, the data indicated that the patients had compensated or partially compensated respiratory alkalosis (pH 7.388 ± 0.060, PCO2 29.2 ± 5.7 mmHg, HCO−3 17.4 ± 3.0 mmol/L, BE −6.7 ± 3.2 mmol/L). Bicarbonate excretion was detected in urine of two examined LS cases in spite of decreased serum HCO−3. In the affected child maintained on a respirator, simple manipulation of the inspired CO2 tension to establish a normal pressure of 35–45 mmHg automatically caused an increase of serum HCO−3 concentration to a normal value of 26.3 ± 2.9 mmol/L (and BE to +2.2 ± 3.1 mmol/L), in spite of cytochrome oxidase (COX) deficiency due to a confirmed SURF1 mutation.We suggest that respiratory alkalosis (hypocapnia) of Leigh syndrome patients with SURF1 mutations results from compulsory hyperventilation and speculate that hypocapnia may contribute to Leigh‐like brain damage in the SURF1‐deficient patients as well as in other patients presenting with Leigh‐like syndrome. The supposition that accumulation of lactate may protect the brain of LS patients from alkalosis‐related damage requires further study. Avoidance of any factors stimulating hyperventilation of LS patients and caution when attempting to correct low plasma bicarbonate are suggested.
A qualitative analysis of posttraumatic stress among Mexican victims of disaster
Authors: Norris Fran H. , Weisshaar Deborah L. , Conrad M. Lori , Diaz Eolia M. , Murphy Arthur D. , Ibañez Gladys E. 
Published: December 2002

AbstractIn unstructured interviews, 24 Mexicans described survivors' responses to disasters in Guadalajara, Jalisco (n = 9), Homestead, Florida (n = 6), and Puerto Angel, Oaxaca (n = 9). This analysis assessed the extent to which symptom descriptions corresponded to the 17 criterion symptoms of PTSD. Nineteen participants (79%) mentioned from 1 to 9 criterion symptoms. Event‐related distress, hypervigilance, recurrent recollections, and avoiding reminders were described most often. Only 3 criterion symptoms were never described. Twenty participants (83%) provided 109 separate expressions that could not be classified specifically as criterion symptoms. These phrases were sorted by 9 independent Mexican volunteers and cluster analyzed. Clusters composed of ataques de nervios, depression, lasting trauma, and somatic complaints provided the best description of the data.
Translating research findings to PTSD prevention: Results of a randomized–controlled pilot study
Authors: Gidron Yori , Gal Reuven , Freedman Sara , Twiser Irit , Lauden Ari , Snir Yoram , Benjamin Jonathan 
Published: December 2002

AbstractBased on therapeutic studies revealing positive prognostic factors and on research findings revealing how trauma is processed, we developed the memory structuring intervention (MSI) in attempt to prevent posttraumatic stress disorder (PTSD). The MSI attempts to shift processing of traumatic memory from uncontrollable somatosensory and affective processes to more controlled linguistic and cognitive processes by providing patients organization, labeling, and causality. In a single‐blind randomized‐controlled pilot study, 17 traffic accident victims at risk for PTSD (heart rate > 94 BPM) were assigned to two MSI or two supportive‐listening control sessions. Three months later, MSI patients reported significantly less frequent intrusive, arousal, and total PTSD symptoms than controls. A replication study with a larger sample is underway.
Forced displacement in Yugoslavia: A meta‐analysis of psychological consequences and their moderators
Authors: Porter Matt , Haslam Nick 
Published: December 2002

AbstractA meta‐analysis was conducted to synthesize what is known about differences in mental health between refugees and nonrefugees from the former Yugoslavia. The analysis focused on moderating effects of a variety of enduring, contextual stressors. Results indicated that refugees suffer significantly more mental health impairment than nonrefugees. The psychological consequences offorced displacement were found to vary significantly as a function of chronic stressors (e.g., locus of displacement and type of accommodation in exile) and were also associated with other factors (e.g., degree of war exposure in the nondisplaced groups, participant age, and time of data collection as reflected in year of publication). Implications for the study of refugee mental health are discussed.
Effects of writing about rape: Evaluating Pennebaker's paradigm with a severe trauma
Authors: Brown Elissa J. , Heimberg Richard G. 
Published: December 2002

AbstractWe examined the effect of disclosing to others an attempted or completed rape. Eighty‐five undergraduate women who acknowledged attempted or completed rape wrote about their experience and read their narratives. In a 2 × 2 design, we examined the value of writing only factual information versus factual plus emotional information, and reading to oneself versus reading aloud to another woman. Before and 1‐month after the task, symptoms of dysphoria, social anxiety, and posttraumatic stress disorder were assessed. Greater detail and a moderate level of personalization in the description of the trauma were associated with decreased symptoms of dysphoria and social anxiety. Neither the nature of the writing task nor the presence of another woman predicted degree of symptom reduction.
Reconstruction of DNA sequencing by hybridization
Authors: Zhang Ji-Hong , Wu Ling-Yun , Zhang Xiang-Sun 
Published: December 2002

Abstract
Motivation: It is widely recognized that the hybridization process is prone to errors and that the future of DNA sequencing by hybridization is predicated on the ability to successfully cope with such errors. However, the occurrence of hybridization errors results in the computational difficulty of the reconstruction of DNA sequencing by hybridization. The reconstruction problem of DNA sequencing by hybridization with errors is a strongly NP-hard problem. So far the problem has not been solved well.
Results: In this paper, a new approach is presented to solve the reconstruction problem of DNA sequencing by hybridization, which realizes the computational part of the SBH experiment. The proposed algorithm accepts both the negative and positive errors. The computational experiments show that the algorithm behaves satisfactorily, especially for the case with k-tuple repetitions and positive errors.
Contact: zhjihong@amss.ac.cn
* To whom correspondence should be addressed.
Simulating complex traits influenced by genes with
fuzzy-valued effects in pedigreed populations
Authors: Carleos C. , Rodriguez F. , Lamelas H. , Baro J.A. 
Published: December 2002

Abstract
Motivation: Methods involving fuzzy theory have been rarely applied to genetics. We present an open platform for experimentation with fuzzy numbers as a tool to represent imprecise phenotypes in genetic modeling.
Results: A C++ library for simulation of genetic information transmission is introduced. The study of genetic linkage was its first goal, though a design so general as possible has been meant. Fuzzy-valued phenotypes are handled by means of fuzzy numbers.
Availability: ftp://carleos.etsiig.uniovi.es/pub/falinftp://fisher.ciencias.uniovi.es/pub/falinftp://bellman.ciencias.uniovi.es/pub/falin Licensed under the GNU General Public License version 2 (see http://www.gnu.org/licenses/gpl.html)
Contact: carleos@pinon.ccu.uniovi.es
* To whom correspondence should be addressed.
An integrated genetic data environment (GDE)-based LINUX interface
for analysis of HIV-1 and other microbial sequences
Authors: De Oliveira T. , Miller R. , Tarin M. , Cassol S. 
Published: December 2002

Abstract
Motivation: Sequence databases encode a wealth of information needed to develop improved vaccination and treatment strategies for the control of HIV and other important pathogens. To facilitate effective utilization of these datasets, we developed a user-friendly GDE-based LINUX interface that reduces input/output file formatting.
Design and Results: GDE was adapted to the Linux operating system, bioinformatics tools were integrated with microbe-specific databases, and up-to-date GDE menus were developed for several clinically important viral, bacterial and parasitic genomes. Each microbial interface was designed for local access and contains Genbank, BLAST-formatted and phylogenetic databases.
Availability: GDE-Linux is available for research purposes by direct application to the corresponding author. Application-specific menus and support files can be downloaded from (http://www.bioafrica.net)
Contact: toliveira@mrc.ac.za
* To whom correspondence should be addressed.