bluuebunny/crossref_metadata_2025_split huggingface dataset:
Searching for a Normal Life: Personal Accounts of Adults With Schizophrenia, Their Parents and Well‐Siblings
Authors: Stein Catherine H. , Wemmerus Virginia A. 
Published: December 2002

AbstractUsing a life course perspective, the research examines personal accounts of adults with schizophrenia, and their parents and well‐siblings from six families. Accounts of multiple members of the same family, including the family member with schizophrenia, are used to describe how families understand and accommodate life changes that result from the illness. Families describe the loss of a “normal life” as one of the most devastating aspects of schizophrenia. We present the personal and social losses described by adults with schizophrenia and their well family members, and document families' search for ways that their ill family member can achieve or maintain valued social roles. The concerns of well family members for the future of the ill family member and ways families contemplate transfer of care issues are described. Implications of the study for community research and action are discussed.
CASE REPORT: Partial effect of bromocriptine on lactose and galactose synthesis in a pregnant woman heterozygous for galactosaemia
Authors: Odièvre M. , Brivet M. , Rivière M‐F. , Labrune P. 
Published: December 2002

AbstractBromocriptine combined with galactose restriction in the matenal diet seems to be partially effective in decreasing endogenous lactose and galactose synthesis, monitored in a pregnant woman heterozygous for galactosaemia at risk of producing a homozygous infant.
Detection of neonatal argininosuccinate lyase deficiency by serum tandem mass spectrometry
Authors: Stadler S. , Gempel K. , Bieger I. , Pontz B. F. , Gerbitz K.‐D. , Bauer M. F. , Hofmann S. 
Published: December 2002

AbstractArgininosuccinate lyase (ASL) deficiency (McKusick 207900) is an inborn error of the urea cycle. The leading symptom is progressive hyperammonaemia, which is a life‐threatening condition, particularly in patients with a neonatal onset. Early diagnosis and treatment of the hyperammonaemia are necessary to improve survival and the long‐term outcome of ASL‐deficient patients. Currently, the diagnosis of ASL deficiency is based on the measurement of urea cycle intermediates and amino acids by automated quantitative ion exchange chromatography in plasma and urine. Here, we report a newborn presenting with coma and severe hyperammonaemia. ASL deficiency was suspected on the basis of an adapted tandem mass spectrometric (MS‐MS) procedure which allows determination of argininosuccinate in addition to the amino acids in serum samples. MS‐MS measurements revealed a characteristic increase of argininosuccinate, a moderate increase of citrulline, and lowered levels of arginine and ornithine in the serum of the patient. The diagnosis was confirmed by the detection of a novel homozygous frameshift mutation in exon 14 of the argininosuccinate lyase gene. We propose MS‐MS as a diagnostic tool suitable for the rapid detection of specific alterations in the amino acid spectra caused by ASL deficiency.
Glycine N‐methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia
Authors: Mudd S. H. , Cerone R. , Schiaffino M. C. , Fantasia A. R. , Minniti G. , Caruso U. , Lorini R. , Watkins D. , Matiaszuk N. , Rosenblatt D. S. , Schwahn B. , Rozen R. , LeGros L. , Kotb M. , Capdevila A. , Luka Z. , Finkelstein J. D. , Tangerman A. , Stabler S. P. , Allen R. H. , Wagner C. 
Published: December 2002

AbstractThis paper reports clinical and metabolic studies of two Italian siblings with a novel form of persistent isolated hypermethioninaemia, i.e. abnormally elevated plasma methionine that lasted beyond the first months of life and is not due to cystathionine β‐synthase deficiency, tyrosinaemia I or liver disease. Abnormal elevations of their plasma S‐adenosylmethionine (AdoMet) concentrations proved they do not have deficient activity of methionine adenosyltransferase I/III. A variety of studies provided evidence that the elevations of methionine and AdoMet are not caused by defects in the methionine transamination pathway, deficient activity of methionine adenosyltransferase II, a mutation in methylenetetrahydrofolate reductase rendering this activity resistant to inhibition by AdoMet, or deficient activity of guanidinoacetate methyltransferase. Plasma sarcosine (N‐methylglycine) is elevated, together with elevated plasma AdoMet in normal subjects following oral methionine loads and in association with increased plasma levels of both methionine and AdoMet in cystathionine β‐synthase‐deficient individuals. However, plasma sarcosine is not elevated in these siblings. The latter result provides evidence they are deficient in activity of glycine N‐methyltransferase (GNMT). The only clinical abnormalities in these siblings are mild hepatomegaly and chronic elevation of serum transaminases not attributable to conventional causes of liver disease. A possible causative connection between GNMT deficiency and these hepatitis‐like manifestations is discussed. Further studies are required to evaluate whether dietary methionine restriction will be useful in this situation.
Dreams and exposure therapy in PTSD
Authors: Rothbaum Barbara Olasov , Mellman Thomas Alan 
Published: December 2002

AbstractExposure therapy is a well‐established treatment for PTSD that requires the patient to focus on and describe the details of a traumatic experience. Nightmares that refer to or replicate traumatic experiences are prominent and distressing symptoms of PTSD and appear to exacerbate the disorder. With this apparent paradox in mind, exposure therapy and the literature on sleep and PTSD are reviewed in the context of the relationship between therapeutic exposure and exposure to traumarelated stimuli that occurs in dreams. It is concluded that nightmares that replay the trauma and disrupt sleep do not meet requirements for therapeutic exposure, whereas other dreaming may aid in the recovery from trauma.
Predictors of PTSD symptom severity and social reactions in sexual assault victims
Authors: Ullman Sarah E. , Filipas Henrietta H. 
Published: December 2002

AbstractDemographics, assault variables, and postassault responses were analyzed as correlates of PTSD symptom severity in a sample of 323 sexual assault victims. Regression analyses indicated that less education, greater perceived life threat, and receipt of more negative social reactions upon disclosing assault were each related to greater PTSD symptom severity. Ethnic minority victims reported more negative social reactions from others. Victims of more severe sexual victimization reported fewer positive, but more negative reactions from others. Greater extent of disclosure of the assault was related to more positive and fewer negative social reactions. Telling more persons about the assault was related to more negative and positive reactions. Implications of these results for developing contextual theoretical models of rape‐related PTSD are discussed.
Financing Social Security and Regulation (EEC) 1408/71
Authors: Verschueren Herwig 
Published: December 2002

This article seeks to provide a clearer picture of the role of methods for funding social security benefits in EC Coordination Regulation 1408/71. In past literature and in the case law surrounding Regulation 1408/71, this role has seldom been mentioned. However, this is changing in light of increasing numbers of questions emerging at both the policy-making level and at the level of Court of Justice proceedings. The first part of this paper deals with the role of different methods of financing social security in determining the material scope of the coordination regulation and the question of whether the method of financing certain benefits has a bearing on this material scope. The second part deals with the existing link within the coordination context between paying or having paid contributions and entitlement to benefits. I discuss, inter alia, the extent to which benefit levels are determined by the same legislation as that which determines contribution levels. I examine the extent to which Member States collecting contributions are also responsible for bearing the cost of the corresponding benefits and the extent to which a person who is paying or has paid contributions is entitled to benefits corresponding to those contributions. In light of this examination of the facts as they stand, I endeavour to consider possible alternatives, including the desirability of having a more direct link within the coordination context between payment of contributions and entitlement to benefits.
Very low‐density lipoprotein apolipoprotein B‐100 turnover in glycogen storage disease type Ia (von Gierke disease)
Authors: Wierzbicki A. S. , Watts G. F. , Lynas J. , Winder A. F. , Wray R. 
Published: December 2002

AbstractMixed hyperlipidaemia is a common finding in glycogen storage disease type Ia (GSD Ia). Although cross‐sectional studies have demonstrated increases in intermediate‐density lipoproteins (IDLs) and reductions in lipoprotein lipase activity, no studies have investigated the dynamics of apolipoprotein B‐100 (apo B) metabolism in GSD Ia. This study investigated apoB turnover in GSD Ia using an exogenous labelling method in one sib from a kinship with established GSD Ia. The study demonstrated normal hepatic secretion of very low‐density lipoprotein (VLDL), but hypocatabolism of VLDL, probably due to lack of lipoprotein lipase activity. The production rate of IDL was slightly increased, but the turnover rate of low‐density lipoprotein was normal. The findings suggest that, as well as a corn starch diet and dietary fat restriction, treatment of severe mixed hyperlipidaemia in GSD Ia and its attendant risk of pancreatitis should possibly involve fibrates that activate lipoprotein lipase and may enhance the clearance of IDL, rather than ω‐3 fatty acids, which principally suppress hepatic secretion of VLDL.
Gene therapy for Fabry disease
Authors: Sitaskas C. , Medin J. A. 
Published: December 2002

AbstractFabry disease is an X‐linked metabolic disorder caused by a deficiency ofα‐galactosidase A (α‐Gal A). Lack of this lysosomal hydrolase results in theaccumulation of galactose‐terminal glycosphingolipids in a number of tissues, including vascular endothelial cells. Premature death is predominantly associated withvascular conditions of the heart, kidneys and brain. Historically, treatment has largelybeen palliative. Alternative treatments for many lysosomal storage diseases have beendeveloped, including allogeneic organ and bone marrow transplantation, enzymereplacement therapy, and gene therapy. Significant clinical risks still exist withallogeneic transplantations. α‐Gal A enzyme replacement therapy has beenimplemented in clinical trials. This approach has been effective but may havelimitations for long‐term systemic or cost‐effective correction. As an alternative, genetherapy approaches, involving a variety of gene delivery systems, have been pursuedfor the amelioration of Fabry disease. Fabry disease is a compelling disorder for genetherapy, as target cells are readily accessible and relatively low levels of enzymecorrection may suffice to reduce storage. Importantly, metabolic cooperativity effectsare also manifested in Fabry disease, wherein corrected cells secrete α‐Gal A that cancorrect bystander cells. In addition, a broad therapeutic window probably exists, andmouse models of Fabry disease have been generated to assist studies. As an example, in vitro and in vivo studies using α‐Gal A‐transduced haematopoietic cells from Fabrymice have demonstrated enzymatic correction of recipient cells and dissemination ofα‐Gal A upon transplantation, leading to reduced lipid storage in a number ofclinically relevant organs. This corrective enzymatic effect has recently been shown tobe even further enhanced upon pre‐selection of therapeutically transduced cells priorto transplantation. This review will briefly detail current gene delivery methods andsummarize results to date in the context of gene therapy for Fabry disease.
Effect of ramipril in a patient with glycogen storage disease type I and nephrotic‐range proteinuria
Authors: Pela I. , Donati M. A. , Zammarchi E. 
Published: December 2002

AbstractWe studied the effect of ramipril on urinary protein excretion and arterial pressure in a 27‐year‐old patient with GSD Ia and heavy proteinuria (2–3 g/24 h). Ramipril therapy resulted in an important reduction of proteinuria (0.3–0.5 g/24 h): no changes were observed in arterial pressure and renal function during the 12‐month follow‐up. We conclude that treatment with ramipril can be employed effectively and safely in GSD Ia patients with nephrotic‐range proteinuria.
A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)
Authors: Voznyi Ya. V. , Keulemans J. L. M. , van Diggelen O. P. 
Published: December 2002

Abstract4‐Methylumbelliferyl‐α‐iduronate 2‐sulphate was synthesized and shown to be a specific substrate for the lysosomal iduronate‐2‐sulphate sulphatase (IDS). Fibroblasts (n = 17), leukocytes (n = 3) and plasmas (n = 9) from different MPS II patients showed <5% of mean normal IDS activity. The enzymatic liberation of the fluorochrome from 4‐methylumbelliferyl‐α‐iduronate 2‐sulphate requires the sequential action of IDS and α‐iduronidase. A normal level of α‐iduronidase activity was insufficient to complete the hydrolysis of the reaction intermediate 4‐methylumbelliferyl‐α‐iduronide formed by IDS. A second incubation step in the presence of excess purified α‐iduronidase is needed to avoid underestimation of the IDS activity.
Self‐rated psychosocial consequences and quality of life in the acute porphyrias
Authors: Millward L. M. , Kelly P. , Deacon A. , Senior V. , Peters T. J. 
Published: December 2002

AbstractA battery of self‐report psychosocial measures was mailed to 116 patients who had been referred for clinical management (clinic attenders) or laboratory diagnosis (non‐clinic attenders) to the London Supraregional Assay Service Centre for Porphyria over the past decade and who tested positive for porphyria. Usable replies were received from 81 (70%) patients. Our interest focused on the prevalence of psychosocial symptoms in acute porphyrias and the perceived effects of porphyria on quality of life and patient experience. Research questions examined included (i), lifestyle factors; (ii) life events; (iii) mental health; (iv) general health; and (v) perceptions of illness of patients receiving specialist clinical management compared to respondents referred for diagnostic investigations, between patients with latent or manifest symptomology and between patients with different types of porphyria.Patients with porphyria have an impaired quality of life, particularly manifest cases, compared to controls and to diabetic patients. Depression, and particularly anxiety, is more common than in the general population or general medical outpatient attenders. Quality of life is lower in acute intermittent porphyria (AIP) than in other forms of porphyria and a significant number of patients had major life event consequences, e.g. failure to secure, or loss of, employment, limitation of family size. Patients attending a clinic providing specialist porphyria advice, management and counselling received some perceived lifestyle benefits.
Anderson–Fabry disease: Clinical manifestations of disease in female heterozygotes
Authors: Whybra C. , Kampmann Chr. , Willers I. , Davies J. , Winchester B. , Kriegsmann J. , Brühl K. , Gal A. , Bunge S. , Beck M. 
Published: December 2002

AbstractAnderson–Fabry disease is a rare, X‐chromosomal lipid storage disorder caused by a deficiency of lysosomal α‐galactosidase A. Clinical manifestations of Anderson–Fabry disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson–Fabry disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular disease, and gastrointestinal and heart problems. It therefore appears that Anderson–Fabry disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X‐linked dominant disease.
Recent victimization in women and men with severe mental illness: Prevalence and correlates
Authors: Goodman Lisa A. , Salyers Michelle P. , Mueser Kim T. , Rosenberg Stanley D. , Swartz Marvin , Essock Susan M. , Osher Fred C. , Butterfield Marian I. , Swanson Jeffrey , Lamb‐Pagone Jerilynn , Burns Barbara J. , Meador Keith G. , Swanson Jeffrey W. , Becker Mary E. , Bosworth Hayden B. , Frothingham Richard , Horner Ronnie D. , McIntyre Lauren M. , Spivey Patricia M. , Stechuchak Karen M. , Garber Lisa J. , Gearon Jean S. , Goldberg Richard W. , Herron John D. , Hoffman Raymond S. , Riismandel Corina L. , Auciello Patricia C. , Drake Robert E. , Iber Mark C. , Luckoor Ravindra , Skillman Gemma R. , Wolfe Rosemarie S. , Vidaver Robert M. 
Published: December 2002

AbstractThe problem of violence against individuals with severe mental illness (SMI) has received relatively little notice, despite several studies suggesting an exceptionally high prevalence of victimization in this population. This paper describes the results of an investigation of the prevalence and correlates of past year physical and sexual assault among a large sample of women and men with SMI drawn from inpatient and outpatient settings across 4 states. Results confirmed preliminary findings of a high prevalence of victimization in this population (with sexual abuse more prevalent for women and physical abuse more prevalent for men), and indicated the existence of a range of correlates of recent victimization, including demographic factors and living circumstances, history of childhood abuse, and psychiatric illness severity and substance abuse. The research and clinical implications of these findings are discussed.
Interleukin-6 Enhances Transforming Growth Factor-alpha mRNA Expression in Macrophage-Like Human Monocytoid (U-937-1) Cells
Authors: Hallbeck A. L. , Walz T. M. , Wasteson A. 
Published: December 2002

We have previously reported that the human monocytoid cell line U-937-1 constitutively expresses transforming growth factor-alpha (TGF-α) and that the steady-state levels of TGF-α mRNA as well as TGF-α protein release increase when U-937-1 cells are differentiated towards monocytes/macrophages. Interleukin-6 (IL-6), which has been shown to have growth-stimulatory effects on a number of cell types, has recently been shown to enhance TGF-α expression in keratinocytes. In the present study we investigated whether TGF-α expression in macrophage-like cells could be regulated by IL-6 using U-937-1 cells as a model system of monocyte/macrophage differentiation.
U-937-1 cells were differentiated with retinoic acid (RA), vitamin D3 (Vit-D3) or phorbol-12-myristate-13-acetate (PMA) for 4 days and were then treated with human recombinant IL-6 (1000 IU/ml) for up to 24 hr. Northern blot analysis revealed that cells differentiated with PMA, inducing the phenotype of a secretory macrophage, markedly increased their TGF-α mRNA levels (2.7-fold) when treated with IL-6; the response was maximal at 6 hr and remained high at 12 hr. The expression of the TGF-α gene was accompanied by release of TGF-α protein into the cell culture medium, irrespective of differentiating agent, as demonstrated by enzyme-linked immunosorbent assay (ELISA), as well as by surface expression of pro-TGF-α as determined by indirect immunofluorescent cytometry. However, the superinduction of the TGF-α gene by IL-6 in cells differentiated with PMA was not accompanied by any increase in TGF-α protein release or pro-TGF-α surface expression.
We conclude that since IL-6 causes increased steady-state levels of TGF-α mRNA in macrophage-like cells, it may prime these cells for production of this growth factor. Furthermore, we have shown that the IL-6 receptor complex is functional in U-937-1 cells induced to differentiate towards a secretory macrophage by treatment with PMA.
Ghrelin and des-acyl ghrelin inhibit cell death in cardiomyocytes and endothelial cells through ERK1/2 and PI 3-kinase/AKT
Authors: Baldanzi Gianluca , Filigheddu Nicoletta , Cutrupi Santina , Catapano Filomena , Bonissoni Sara , Fubini Alberto , Malan Daniela , Baj Germano , Granata Riccarda , Broglio Fabio , Papotti Mauro , Surico Nicola , Bussolino Federico , Isgaard Jorgen , Deghenghi Romano , Sinigaglia Fabiola , Prat Maria , Muccioli Giampiero , Ghigo Ezio , Graziani Andrea 
Published: December 2002

Ghrelin is an acyl-peptide gastric hormone acting on the pituitary and hypothalamus to stimulate growth hormone (GH) release, adiposity, and appetite. Ghrelin endocrine activities are entirely dependent on its acylation and are mediated by GH secretagogue (GHS) receptor (GHSR)-1a, a G protein–coupled receptor mostly expressed in the pituitary and hypothalamus, previously identified as the receptor for a group of synthetic molecules featuring GH secretagogue (GHS) activity. Des-acyl ghrelin, which is far more abundant than ghrelin, does not bind GHSR-1a, is devoid of any endocrine activity, and its function is currently unknown. Ghrelin, which is expressed in heart, albeit at a much lower level than in the stomach, also exerts a cardio protective effect through an unknown mechanism, independent of GH release. Here we show that both ghrelin and des-acyl ghrelin inhibit apoptosis of primary adult and H9c2 cardiomyocytes and endothelial cells in vitro through activation of extracellular signal–regulated kinase-1/2 and Akt serine kinases. In addition, ghrelin and des-acyl ghrelin recognize common high affinity binding sites on H9c2 cardiomyocytes, which do not express GHSR-1a. Finally, both MK-0677 and hexarelin, a nonpeptidyl and a peptidyl synthetic GHS, respectively, recognize the common ghrelin and des-acyl ghrelin binding sites, inhibit cell death, and activate MAPK and Akt.
These findings provide the first evidence that, independent of its acylation, ghrelin gene product may act as a survival factor directly on the cardiovascular system through binding to a novel, yet to be identified receptor, which is distinct from GHSR-1a.
InterPreTS: protein

Inter

action

Pre

diction through

T

ertiary

S

tructure
Authors: Aloy Patrick , Russell Robert B. 
Published: December 2002

Abstract
Summary: InterPreTS (Interaction Prediction through Tertiary Structure) is a web-based version of our method for predicting protein–protein interactions (Aloy and Russell, 2002, Proc. Natl Acad. Sci. USA, 99, 5896–5901). Given a pair of query sequences, we first search for homologues in a database of interacting domains (DBID) of known three-dimensional complex structures. Pairs of sequences homologous to a known interacting pair are scored for how well they preserve the atomic contacts at the interaction interface. InterPreTS includes a useful interface for visualising molecular details of any predicted interaction.
Availability: http://www.russell.embl.de/interprets
Contact: aloy@embl.de
* To whom correspondence should be addressed.