bluuebunny/crossref_metadata_2025_split huggingface dataset:
Liver transplantation for citrullinaemia improves intellectual function
Authors: Fletcher J. M. , Couper R. , Moore D. , Coxon R. , Dorney S. 
Published: December 2002

AbstractBackground: Arginosuccinic acid synthetase (ASA) (EC 6.3.4.5) deficiency (citrullinaemia) (McKusick 215700) is a well‐recognized cause of neonatal hyperammonaemic coma with poor long‐term intellectual function, despite good medical management.Methods: Cadaveric hepatic transplantation was performed in a 12‐year‐old boy with citrullinaemia under poor biochemical control. Subsequent development of fulminant hepatic failure necessitated a second cadaveric transplant. Psychometric assessments before and after transplantation were performed using a variety of age‐appropriate tests.Results: Normalization of plasma ammonium in our patient post transplantation has resulted in dramatic improvement in mental functioning and well‐being and he now enjoys a normal diet. Psychometric assessment confirmed decline in his abilities prior to transplantation with particular post‐transplantation improvement in perceptual organization and visuospatial abilities; these did not, however, return to normal. His family report considerable reduction in stress associated with the unpredictable nature of previous hyperammonaemic crises and recurrent hospitalization.Conclusions: Liver transplantation should be considered as an early therapeutic option in children with citrullinaemia to prevent ongoing cerebral insult associated with hyperammonaemia.
Intracellular degradation of fluorescent glycolipids by lysosomal enzymes and their activators
Authors: Madar‐Shapiro L. , Pasmanik‐Chor M. , Dinur T. , Dagan A. , Gatt S. , Horowitz M. 
Published: December 2002

AbstractFluorescent glycolipids were utilized for detection of the intracellular, activator‐dependent, activities of β‐glucocerebrosidase and arylsulphatase A. Activities were measured in primary skin fibroblasts from normal individuals, from patients with Gaucher disease who had mutations within the β‐glucocerebrosidase gene, and from a prosaposin‐deficient patient. Fluorescent microscopy demonstrated that glucosylceramide or sulphatide labelled with a fluorescent probe (lissamine‐rhodamine) were endocytosed and reached the lysosomes. There, in the presence of active enzyme and the corresponding saposin, they were hydrolysed to fluorescent ceramide, which changed its intracellular localization. When these substrates were labelled with pH‐sensitive lissamine‐rhodamine, which loses its fluorescence at neutral or alkaline pH, the transport of the product, i.e. fluorescent ceramide, from the lysosomes resulted in disappearance of the cellular fluorescence. In cells of patients having mutations within the genes encoding the glucocerebrosidase or the prosaposin, there was a considerable reduction in the intracellular rate of substrate hydrolysis that could be followed by fluorescence microscopy or measured quantitatively in cell extracts.
Regression of neuropsychological deficits in early‐treated phenylketonurics during adolescence
Authors: Weglage J. , Pietsche M. , Denecke J. , Sprinz A. , Feldman R. , Grenzebach M. , Ullrich K. 
Published: December 2002

AbstractEven early‐treated phenylketonuric patients suffer from phenylalanine‐associated (mild) neuropsychological impairment. To date it is still unclear whether patients' deficits show a progression on ageing. This unsolved question seems to be an important aspect in the still ongoing debate about how long and how strictly the patients should be maintained on diet. Twenty early‐treated (20±10, 9–30 days) adolescent phenylketonurics (10 boys, 10 girls) and 20 healthy controls, matched for age, sex and IQ, were inves‐tigated twice at a mean ages of 11 and 14 years for their IQ (Culture Fair Intelligence Test–Scale 2; CFT‐20), fine motor abilities (Motor PerformanceTask), sustained (Test d2) and selective attention (Stroop‐Task). At the first test, examinations revealed significant blood phenylalanine‐correlated neuropsychological deficits in PKU patients. In spite of raised blood phenylalanine concentrations during the following 3 years and significantly elevated concurrent blood phenylalanine concentrations, the repeated measurements revealed a significant decrease of patients' deficits compared to controls. Clinical‐neurological status of patients and controls was normal at both test times. The results indicate a decreased vulnerability of PKU‐patients with respect to their neuropsychological functioning against elevated blood phenylalanine levels on ageing.
Inborn errors of neurotransmitter receptors
Authors: Surtees R. 
Published: December 2002

AbstractInborn errors of neurotransmitter receptors are recently described gene mutations that directly affect receptor function. Currently three conditions are known to be caused by this mechanism: hyperekplexia; two forms of congenital inherited myasthenic syndromes; and autosomal dominant nocturnal frontal lobe epilepsy. Here, neurotransmitters, their receptors and known inborn errors of receptor function are reviewed.
Multiple mtDNA deletions: Clinical and molecular correlations
Authors: Santorelli F. M. , De Joanna G. , Casali C. , Tessa A. , Siciliano G. , Amabile G. A. , Pierelli F. , Vilarinho L. , Santoro L. 
Published: December 2002

AbstractWe studied six Italian patients harbouring multiple mitochondrial DNA (mtDNA) deletions in order to correlate clinical and molecular features. Earlier age at onset (17 vs 36 years), fewer ragged‐red fibres (none vs 35%), and lower proportions of deleted mtDNAs (9 vs 33%) were found in one patient with autosomal recessive inheritance as compared to five with dominant transmission. Our findings add to the features associated with multiple deletions of mtDNA.
A serine/alanine polymorphism in the nucleotide‐binding fold‐2 of the sulphonylurea receptor‐1 (S1369A) is associated with enhanced glucose‐induced insulin secretion during pregnancy
Authors: Krugluger W. , Festa A. , Shnawa N. , Bucher J. , Boltz‐Nitulescu G. , Schernthaner G. , Hopmeier P. 
Published: December 2002

AbstractThe sulphonylurea receptor‐1 (SUR‐1) regulates glucose‐induced insulin secretion by controlling K+‐ATP channel activity of the pancreatic β‐cell membrane. In this study, we investigated the putative role of a T/G‐polymorphism (exon 33, codon 1369; S1369A) in the adenosine diphosphate‐sensing nucleotide‐binding fold‐2 (NBF‐2) of the SUR‐1 on glucose‐induced insulin secretion during an oral glucose tolerance test in pregnant women (PW; n=182). Compared to PW with the T/T genotype, statistically significant elevated C‐peptide concentrations were found 60 min after glucose intake in PW with the T/G and G/G genotype (T/T 9.0±0.4 ng/ml vs T/G 10.8±0.4 ng/ml or G/G 10.8±0.7 ng/ml, p=0.01). Furthermore, compared to PW with T/T genotype the ΔC‐peptide (60/0 min) was significantly enhanced in PW with T/G or G/G genotype (T/T 6.7±0.3 vs T/G 8.9±0.4 or G/G 8.9±0.7, p=0.0009). A significant correlation of C‐peptide concentrations with blood glucose (BG) 60 min after glucose intake was only found in PW with the T/T genotype (r=0.6, p<0.0004). Similarly, a significant correlation of insulin concentrations with BG 60 min after glucose intake was observed in PW with T/T genotype (r=0.5, p<0.0001) and T/G genotype (r=0.24, p<0.03) but not in PW with G/G genotype (r=0.01, p=0.9). From our data we conclude that in PW with the alanine substitution in the NBF‐2 region, the insulin response of the pancreatic β‐cell after glucose intake is enhanced and does not correlate with actual BG levels
Quantitative measurement of total and free 3‐hydroxy fatty acids in serum or plasma samples: short‐chain 3‐hydroxy fatty acids are not esterified
Authors: Jones P. M. , Burlina A. B. , Bennett M. J. 
Published: December 2002

AbstractDiagnostic protocols for disorders of mitochondrial fatty acid oxidation (FAO) generally include the measurement of plasma acylcarnitines. Many biochemical intermediates of FAO resulting from a metabolic block require carnitine conjugation for transport out of the mitochondria, and so occur as fatty acid–carnitine conjugates in the blood. Both short‐ and long‐chain acylcarnitines are generally determined, and this procedure has a critical role to play in the diagnosis of disorders of the very long‐chain, medium‐chain and short‐chain acyl‐CoA dehydrogenase defects. Less is known about the utility of acylcarnitines for the measurement of the various chain length intermediates of the 3‐hydroxyacyl‐CoA dehydrogenase steps of β‐oxidation. This study utilizes stable‐isotope dilution gas chromatography–mass spectrometry to determine the serum or plasma concentrations of free 3‐hydroxy fatty acids (3‐OHFAs) of chain lengths C6 to C16. The 3‐OHFA concentrations are determined in samples from normal individuals, hyperketotic individuals and patients with long‐chain L‐3‐hydroxyacyl‐CoA dehydrogenase and short‐chain L‐3‐hydroxyacyl‐CoA dehydrogenase deficiencies, both before and after hydrolysis. The results of the study indicate the relative amounts of conjugated intermediates of all chain lengths. Long‐chain 3‐OHFAs (C14 and C16) are found in elevated concentrations after hydrolysis, whereas short‐chain and medium‐chain 3‐OHFAs (C6 to C12) show no difference in concentrations between the two samples in all subjects tested, suggesting that only long‐chain 3‐hydroxy species form conjugates. This finding has important implications for the use of the acylcarnitine assay for the diagnosis of defects involving short‐chain and medium‐chain 3‐hydroxy fatty acids.
Bone marrow transplantation for the treatment of X‐linked adrenoleukodystrophy
Authors: Suzuki Y. , Isogai K. , Teramoto T. , Tashita H. , Shimozawa N. , Nishimura M. , Asano T. , Oda M. , Kamei A. , Ishiguro H. , Kato S. , Ohashi T. , Kobayashi H. , Eto Y. , Kondo N. 
Published: December 2002

AbstractThe effects of bone marrow transplantation (BMT) in X‐linked childhood adrenoleukodystrophy (ALD) are described in four Japanese patients. Two older patients, 10‐year‐old boys with IQ 60 and difficulty in school, had favourable results. IQ levels and MRI findings were generally maintained after BMT. One patient showed improvement of gait disturbance. They have both attended ordinary schools after BMT, although a learning disorder persists. On the other hand, two other younger patients with a rapid course and indeterminate IQ at BMT showed deterioration of neurological functions. Indication for BMT seems to be a maintained IQ level, preferably higher than 80, since it seems to be difficult to normalize IQ level after BMT. Younger patients have higher risk of developing a rapidly progressive form of the disease. Identification of presymptomatic boys, and serial and careful follow‐up by neuropsychological and neuroradiological studies, are essential prerequisites to successful BMT in X‐ALD.
Enhanced lymphocyte proliferation in patients with adrenoleukodystrophy treated with erucic acid (22:1)‐rich triglycerides
Authors: Barmaki Pour R. , Stöckler‐Ipsiroglu S. , Hunneman D. H. , Gahr M. , Korenke G. C. , Pabst W. , Hanefeld F. , Peters A. 
Published: December 2002

AbstractLymphocytopenia and depression of natural killer cells have been observed in patients with adrenoleukodystrophy (ALD) treated with glycerol trioleate and glycerol trierucate (‘Lorenzo's oil’). To investigate possible alterations of cellular immunoreactivity, we measured lymphocyte proliferation in response to mitogens (PHA, Con A, PWM, OKT3) in 27 patients on treatment and in 14 patients without treatment. In patients on treatment, lymphocyte proliferation in response to the mitogens PHA and Con A was significantly higher than in patients without treatment. Lymphocyte proliferation in patients without treatment was comparable to that of normal control lymphocytes. Additionally, we found increased concentrations of erucic acid, C22:1, in lymphocytes from patients with treatment. The enhanced proliferation of lymphocytes in response to mitogens is an indication of increased reactivity of cellular immunity to unspecific immunological stimuli. Long‐term side‐effects on cellular immunoreactivity have to be considered in ALD patients treated with Lorenzo's oil.
Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum
Authors: Quackenbush E. J. , Kraemer K. H. , Gahl W. A. , Schirch V. , Whiteman D. A. H. , Levine K. , Levy H. L. 
Published: December 2002

AbstractGlycine is a nonessential amino acid that serves as both an inhibitory and an excitatory neurotransmitter. Hyperglycinaemia occurs in nonketotic hyperglycinaemia, a primary defect in the glycine cleavage pathway, and as a secondary feature of several inborn errors of organic acid metabolism. However, specifically low levels of glycine have never been reported. Here we report a child with complementation group C xeroderma pigmentosum (XP) characterized by a splice donor mutation in the XPC gene, multiple skin cancers and specific and persistent hypoglycinaemia. He has cognitive delay, lack of speech, autistic features, hyperactivity and hypotonia, all unexplained by the diagnosis of XP group C, a non‐neurological form of the disease. Treatment with oral glycine has improved his hyperactivity. Specific hypoglycinaemia could indicate a metabolic disorder producing neurological dysfunction. Whether it is related to or coincidental with the XP is unclear.
Let's Ask the Homeless People Themselves: A Needs Assessment Based on a Probability Sample of Adults
Authors: Acosta Olga , Toro Paul A. 
Published: December 2002

AbstractA probability sample of 301 homeless adults from Buffalo, NY, was followed over 6 months to document the utilization of a variety of community services, examine services desired, and identify factors associated with service utilization, preference, and satisfaction. The following needs were all rated as at least equally important as the need for affordable housing: safety, education, transportation, medical/dental treatment, and job training/placement (most of these needs were also rated as difficult to obtain). Needs for formal mental health and substance abuse services were rated as relatively unimportant and easy to obtain, and for those who actually used them, respondents were often dissatisfied with them. Of 16 predictor variables examined in multivariate analyses, several showed consistent relationships with subsequent service use, preference, and satisfaction. Younger adults, persons of color, those with dependent children, and persons having fewer social supports reported less service utilization, less satisfaction with services received, different perceived needs for particular services, and/or greater difficulty obtaining services.
Psychometric Properties of the Multidimensional Scale of Perceived Social Support in Urban Adolescents
Authors: Canty-Mitchell Janie , Zimet Gregory D. 
Published: December 2002

AbstractThe psychometric properties of the Multidimensional Scale of Perceived Social Support (MSPSS) were investigated in 222 urban, largely African‐American adolescents (68%). High internal consistency was demonstrated, and factor analysis confirmed the three subscale structures of the MSPSS: family, friends, and significant other. Correlations with a family caring scale supported the discriminant validity of the Family subscale. These results confirm the reliability, validity, and utility of the MSPSS with an urban, largely African‐American adolescent sample. Implications of the findings are discussed.
Feminist and Community Psychology Ethics in Research with Homeless Women
Authors: Paradis Emily K. 
Published: December 2002

AbstractThis paper presents a feminist and community psychology analysis of ethical concerns that can arise throughout the process of doing research with women who are homeless. The unique contexts of the lives of women who are homeless demand that researchers redefine traditional ethical constructs such as consent, privacy, harm, and bias. Research that fails to do this may perpetuate the stereotyping, marginalization, stigmatization, and victimization homeless women face. Feminist and community research ethics must go beyond the avoidance of harm to an active investment in the well‐being of marginalized individuals and communities. Using feminist and community psychology ethics, this paper addresses some common problems in research with women who are homeless, and argues for the transformation of research from a tool for the advancement of science into a strategy for the empowerment of homeless women and their communities.
Family Conflict and Children's Internalizing and Externalizing Behavior: Protective Factors
Authors: Formoso Diana , Gonzales Nancy A. , Aiken Leona S. 
Published: December 2002

AbstractThe current investigation examined whether the positive association of family conflict to adolescent depression and conduct problems is attenuated by maternal, paternal, and peer attachment, and maternal and paternal monitoring, within a low‐income, multiethnic sample of 284 adolescents. Parental attachment and monitoring moderated the link from family conflict to conduct problems but not depression; the relationships among family conflict, the hypothesized protective factors, and conduct problems were further modified by adolescent gender but not ethnicity. In general, higher levels of the hypothesized protective factors attenuated the relationship between family conflict and conduct problems for girls but exacerbated this relationship for boys. These findings suggest that, in general, parental attachment and monitoring served as protective factors for girls while serving as additional risk factors for boys in conflictual families.
A History of Women and Feminist Perspectives in Community Psychology
Authors: Bond Meg A. , Mulvey Anne 
Published: December 2002

AbstractUsing an historical framework, we document and assess efforts to include women, women's issues, and feminism in community psychology and in the Society for Community Research and Action (SCRA). Initiatives of the SCRA Task Force/Committee on Women are traced from its inception to present. We also chronicle the dilemmas and difficulties of moving toward a feminist community psychology. The history is divided into five phases. Each phase is described in terms of women's involvement in the field and efforts to integrate feminist content into research and practice of the field. Reflections on the qualities of contexts that have both supported and inhibited inclusion are identified. We look to this history to try to understand the observation that while women have been increasingly visible in leadership roles and women's professional development has been encouraged, less progress has been made toward building a feminist community psychology.
The Importance of Community in a Feminist Analysis of Domestic Violence among American Indians
Authors: Hamby Sherry L. 
Published: December 2002

AbstractThere are over 500 native communities in the United States alone. Although popular conceptions in the majority culture commonly refer to these as a single American Indian group, native communities are in fact extremely diverse and heterogeneous. Issues of gender, class, and power are discussed from a feminist perspective with an emphasis on the diversity among native communities. Available evidence, while sketchy, suggests that male authority, male restrictiveness, and socioeconomic stress are associated with violence, but that the levels of these factors vary widely across native groups. For example, some native tribes practice matrilineal descent while others are patrilineal. This diversity has far‐reaching implications for the community context in which domestic violence occurs. An approach that integrates both feminist and community approaches seems best suited to address the problem of domestic violence in native North America.
The Listening Partners Program: An Initiative Toward Feminist Community Psychology in Action
Authors: Bond Lynne A. , Belenky Mary Field , Weinstock Jacqueline S. 
Published: December 2002

AbstractThe Listening Partners intervention is described and analyzed as a synthesis of feminism and community psychology, within a developmental framework. Working from an empowerment perspective, this social action, peer group intervention supported a community of poor, rural, isolated, young, White mothers to gain a greater voice, claim the powers of their minds, and collaborate in developmental leadership—creating settings that promote their own development and that of their families, peers, and communities. High quality dialogue, individual and group narrative, and collaborative problem‐solving were emphasized, in a feminist context affirming diversity, inclusiveness, strengths, social‐contextual analyses, and social constructivist perspectives. The power of enacting a synergy of feminism and community psychology is highlighted.
Community Narratives: Tales of Terror and Joy
Authors: Rappaport Julian 
Published: December 2002

AbstractInspired by a literary‐feminist reading of biblical texts, it is suggested that the mission of community psychology/social science can be understood as a calling to use our tools (research methods, critical analysis and observation, scholarship, social influence) to assist others in the job of turning tales of terror into tales of joy. Such work is the essence of personal and social change. These are not things we can do alone; they require collaboration between us and the people of concern. Applying concepts from narrative theory, including description and critical analysis of community and setting narratives, dominant cultural narratives, and personal stories, we can learn from our own communities and we can use our resources to help make known (perhaps even help to imagine new) tales of joy. Some of these themes are illustrated in three very different contexts: a religious community that has made itself inclusive of gay and lesbian people, a mutual help organization that offers a sense of community and hope for the future to people with a history of serious mental illness, and a public elementary school.
Speaking for Ourselves: Feminist Methods and Community Psychology
Authors: Cosgrove Lisa , McHugh Maureen C. 
Published: December 2002

AbstractAlthough feminist and community psychology share a number of epistemological and methodological perspectives that guide their respective theories and research practices, it has been argued that community psychology has not fully integrated a feminist perspective into the discipline. This paper examines how community psychology and feminist research methods might combine to help us better understand women's experiences without essentializing or universalizing those experiences. The authors offer a series of suggested directions for feminist research that may also prove promising for community psychology. Particular attention is paid to feminist social constructionist approaches insofar as they address the complex relationship between epistemology and methodology.
Making a Difference: The Social Ecology of Social Transformation
Authors: Maton Kenneth I. 
Published: December 2002

AbstractA multidisciplinary and multilevel framework for social transformation is proposed, encompassing four foundational goals: capacity‐building, group empowerment, relational community‐building, and culture‐challenge. Intervention approaches related to each goal are presented at the setting, geographic community, and societal levels. Four exemplars of social transformation work are then discussed: the Accelerated Schools Project, Meyerhoff Program, ManKind Project, and women's movement. These examples illustrate the synergistic relationship among the four transformational goals, within and across levels of analysis, which is at the heart of the social transformation process. The paper concludes with three challenges to guide our efforts as we enter the new century: (1) to move social transformation to the center of our consciousness as a field; (2) to articulate jointly with allied disciplines, organizations, and citizen groups an encompassing, multidisciplinary, and multilevel framework for social transformation; and (3) to do the above with heart, soul, and humility.