bluuebunny/crossref_metadata_2025_split huggingface dataset:
Predictors of Condom Use in Mexican Migrant Laborers
Authors: Organista Kurt C. , Organista Pamela Balls , Bola John R. , Javier E. , García de Alba G. , Morán Marco Antonio Castillo 
Published: December 2002

AbstractThe purpose of this study was to explore predictors of condom use with occasional sex partners and regular sex partners, as well as carrying condoms in a new high‐risk group for HIV infection, Mexican migrant laborers. This study extends previous findings by (1) exploring additional predictors not previously examined, (2) utilizing a large sample of male and female Mexican migrant laborers, (3) carefully controlling for the effects of various demographic and lifestyle variables related to condom use, and (4) assessing the interactive effects of gender on predictors of condom use. Snowball sampling was used to survey 501 adult Mexican migrant laborers. Results revealed that condom use with occasional sex partners was predicted by carrying condoms and condom self‐efficacy and that women were more likely to use condoms with occasional partners when both men and women knew someone with HIV/AIDS. Condom use with regular sex partners was predicted by procondom social norms, less negative attitudes toward condoms, not knowing someone with HIV/AIDS, and condom self‐efficacy. Carrying condoms was predicted by procondom social norms, less negative attitudes toward condoms, condom self‐efficacy, worry about contracting HIV/AIDS, and women were more likely than men to carry condoms when both men and women were married. Understanding these findings, future research directions, and implications for condom promotion strategies with Mexican migrant laborers are discussed.
The Impact of Welfare Reform on Men's Violence against Women
Authors: Riger Stephanie , Krieglstein Maryann 
Published: December 2002

AbstractWelfare reform is likely to have a profound effect on the lives of poor women who are being abused. This article proposes exchange theory and the feminist “backlash hypothesis” as frameworks with which to assess the impact of welfare reform on violence levels in abusive relationships. Exchange theory suggests that if a woman leaves welfare and obtains employment that increases her economic resources, violence against her will decrease. The backlash hypothesis makes a different prediction: Violence will increase as men attempt to compensate for women's enhanced status or independence. Both approaches are examined in light of current data. As demonstrated here, the incorporation into social policy analyses of feminist thinking about dominance and power will enrich our understanding of the impact of social policy changes on people.
The Relation of Perceived Neighborhood Danger to Childhood Aggression: A Test of Mediating Mechanisms
Authors: Colder Craig R. , Mott Joshua , Levy Susan , Flay Brian 
Published: December 2002

AbstractIn the current study, two mediational mechanisms, parenting practices and children's beliefs about aggression, were hypothesized to account for the relationship between perceived neighborhood danger and childhood aggression. Using structural equation modeling, data were analyzed from an inner‐city school‐based sample of 732 predominantly African American 5th graders. Results suggested that perceived neighborhood danger was associated with strong positive beliefs about aggression, which in turn was associated with high levels of aggression. The hypothesized mediating role of parenting practices (restrictive discipline, parental monitoring, and parental involvement) on the relation between perceived neighborhood danger and child aggression was not supported. However, the current findings suggest that children's positive beliefs about aggression mediated the relationship between restrictive discipline and aggression. Directions for future research are discussed.
Investing in Children, Families, and Communities: Challenges foran Interdivisional Public Policy Collaboration
Authors: Solarz Andrea L. 
Published: December 2002

AbstractAn interdivisional collaboration to foster the development of strengths‐based policies for children, youth, families, and communities is described. The initiative includes (1) producing a book that integrates scholarly research and policy; (2) developing materials for policymakers to use, including a policy‐oriented summary of the book; (3) enhancing the capacities of the divisions to communicate with and influence policymakers; and (4) taking action steps to influence policymakers. During the process of developing these products, a number of tensions emerged between the academically‐based and policy‐based authors of the book, many of which centered around how the information should be presented and, in particular, how to formulate and present policy recommendations. Tensions fell into four general categories: understanding the appropriate scope for recommendations, using the right language, understanding the kind of information that is needed, and understanding the bottom line. The author concludes by urging psychologists to become adept at understanding and participating in the public policymaking process.
Transforming Community Psychology
Authors: Riger Stephanie 
Published: December 2002

AbstractCommunity psychology has made great strides in including context when understanding people in their environments. While continuing to consider context, we need to expand our conceptualization of the individual in community settings. I propose 3 principles: (1) focus our research on people, not programs; (2) consider multiple dimensions of people's experience; and (3) conceptualize people as agentic and not simply as reactors to the environmental press. I illustrate those principles with research on domestic violence and welfare reform. In doing so, I call attention both to the way in which aspects of people's lives intersect with community settings, and to the embeddedness of people's lives (and community settings) in larger social structures.
Dextromethorphan in nonketotic hyperglycinaemia: metabolic variation confounds the dose‐response relationship
Authors: Arnold G. L. , Griebel M. L. , Valentine J. L. , Koroma D. M. , Kearns G. L. 
Published: December 2002

AbstractNonketotic hyperglycinaemia (NKH) is an inborn error of the glycine cleavage system resulting in seizures and mental retardation. Two prior reports noted an anticonvulsant effect from high‐dose dextromethorphan (DM) in this disorder, although the two reported patients demonstrated widely disparate DM requirements and drug levels. We report two children with NKH who also demonstrated disparate and variable DM metabolism which markedly influenced the dose‐concentration‐response relationship. Levels of DM and its primary metabolite dextrorphan (DX) were utilized to guide DM therapy and exhibited patterns reflective of the extensive and poor metabolizer phenotypes for CYP2D6, the cytochrome P450 isoform responsible for DM metabolism. In the patient who appeared to represent the extensive metabolizer (EM) phenotype, treatment with the non‐specific cytochrome P450 inhibitor cimetidine was required to reduce biotransformation of DM to DX and, thus, to increase DM plasma concentrations. In the patient with the apparent poor metabolizer (PM) phenotype, a change in the DM preparation to a sustained‐release form and increase in the dosing interval was required to lower DM plasma concentrations. These cases demonstrate the importance of CYP2D6 phenotype in providing safe and effective DM therapy to patients with NKH.
Hepatic porphyrias in children
Authors: Elder G. H. 
Published: December 2002

AbstractClinically overt hepatic porphyria is uncommon in children. The autosomal dominant acute hepatic porphyrias, acute intermittent porphyria (AIP), variegate porphyria (VP) and hereditary coproporphyria (HCP), are rarely present before puberty. Identification of asymptomatic children who have inherited these disorders is an important aspect of the management of the disease in their families and requires either enzymatic or DNA methods. Homozygous variants of AIP, VP and HCP usually present in early childhood and have phenotypes of variable severity. Mutational analysis is currently elucidating the relationship between these disorders and their autosomal dominant counterparts. 5‐Aminolaevulinate dehydratase deficiency porphyria is a rare, autosomal recessive acute porphyria that may present at any age. Two cutaneous hepatic porphyrias are seen in children. Porphyria cutanea tarda (PCT), although mainly an adult disease, has been reported in young children with the autosomal dominant (type II) form of the disorder. Hepatoerythropoietic porphyria usually develops before the age of 2 years; patients are homo‐ or heteroallelic for uroporphyrinogen decarboxylase mutations, at least one of which is known to cause type II PCT.
Biochemical characterization of the S135L allele of galactose‐1‐phosphate uridylyltransferase associated with galactosaemia
Authors: Wells L. , Fridovich‐Keil J. L. 
Published: December 2002

AbstractImpairment of the human enzyme galactose‐1‐phosphate uridylyltransferase (GALT) results in the potentially lethal disorder galactosaemia. The S135L mutation, which accounts for almost 50% of the GALT alleles in galactosaemia patients of African‐American descent, has been associated with activities ranging from null to wild‐type by different investigators examining cell lysates representing different tissues or model systems. Because of the crude nature of the lysates examined, however, and the absence of quantitative measures concerning GALT abundance in most of those lysates, the available data do not distinguish between differences in GALT enzyme expression/abundance, specific activity, or kinetic constants in these different tissues or systems. In an effort to overcome this uncertainty and investigate the biochemical impact of the S135L substitution on human GALT function under defined conditions, we have overexpressed both wildtype and S135L‐mutant GALT sequences in a null‐background yeast expression system, and purified both proteins to near homogeneity. Abundance of the wild‐type and mutant proteins in crude yeast lysates differed by ~2‐fold. Kinetic studies of the purified proteins, however, demonstrated that although Km values differed by <2‐fold, specific activities differed by 10‐fold. Temperature‐activity profiles revealed no significant differences, and coprecipitation studies demonstrated that S135L‐hGALT subunits remained competent to self‐associate in vivo. We conclude that the S135L substitution causes either steric or electrochemical changes sufficiently close to the active site in human GALT to result in partial impairment of the transferase reaction.
Liver transplantation for the treatment of urea cycle disorders
Authors: Whitington P. F. , Alonso E. M. , Boyle J. T. , Molleston J. P. , Rosenthal P. , Emond J. C. , Millis J. M. 
Published: December 2002

AbstractThe principal goal of therapy when liver transplantation is used for the treatment of metabolic disease is to correct the metabolic error. By doing so, liver transplantation eliminates the hepatic and peripheral consequences of the error. Inborn errors involving the urea cycle appear on theoretical grounds to be amenable to treatment using liver transplantation and, indeed, published data demonstrate that this approach to therapy can be successful. The purpose of this study is to examine the outcome of liver transplantation done for the indication of urea cycle defects in a large group of patients. The first goal of the study is to determine with certainty that liver transplantation corrects hyperammonaemia and halts the progress of disease. A second goal is to determine the extent of neurological recovery in children previously injured by hyperammonaemia. The final goal is to understand whether the quality of life is improved and medical expense is reduced by transplantation. The study involved a survey of major transplantation centres. Four centres provided data about 16 patients, 14 of whom were alive 11 months to 6 years after transplantation. The results demonstrate that liver transplantation resulted in correction of hyperammonaemia in all patients. The neurological outcome after transplantation correlated closely with the condition prior to transplantation. This population of patients has had relatively few problems in the long term related to the liver transplant itself. The quality of life seems to be much improved, but further study will be needed to confirm this. Limited data involving two patients show a reduction in the cost of care. We conclude from our experience that liver transplantation can be an effective treatment for children with urea cycle defects.
Evaluation of gene therapy for citrullinaemia using murine and bovine models
Authors: Patejunas G. , Lee B. , Dennis J. A. , Healy P. J. , Reeds P. J. , Yu H. , Frazer M. , Mull B. , Warman A. W. , Beaudet A. L. , O'Brien W. E. 
Published: December 2002

AbstractCitrullinaemia is an autosomal recessive disorder caused by the deficiency of argininosuccinate synthase. The deficiency of this enzyme results in an interruption in the urea cycle and the inability to dispose of excess ammonia derived from the metabolism of protein. The only treatment for this disorder has been dietary restriction of protein and supplementation with medications allowing for alternative excretion of excess nitrogen. Gene therapy offers the possibility of a long‐term cure for disorders like citrullinaemia by expressing the deficient gene in the target organ. We have explored the use of adenoviral vectors as a treatment modality for citrullinaemia in two animal models, a naturally occurring bovine model and a murine model created by molecular mutagenesis. Mice treated with adenoviral vectors expressing argininosuccinate synthase lived significantly longer than untreated animals (11 days vs 1 day); however, the animals did not exhibit normal weight gain during the experiment, indicating that the therapeutic effectiveness of the transducing virus was suboptimal. It is speculated that part of the failure to observe better clinical outcome might be due to the deficiency of arginine. In the bovine model, the use of adenoviral vectors did not result in any change in the clinical condition of the animals or in the level of plasma ammonia. However, the use of15N isotopic ammonia allowed us to assess the flux of nitrogen through the urea cycle during the experiment. These studies revealed a significant increase in the flux through the urea cycle following administration of adenoviral vectors expressing argininosuccinate synthase. We conclude that the use of adenoviral vectors in the treatment of citrullinaemia is a viable approach to therapy but that it will be necessary to increase the level of transduction and to increase the level of enzyme produced from the recombinant viral vector. Future experiments will be designed to address these issues.
Mitochondrial abnormalities of liver in two children with citrullinaemia
Authors: Zamora S. A. , Pinto A. , Scott R. B. , Parsons H. G. 
Published: December 2002

AbstractCitrullinaemia is a rare inborn error of urea‐cycle metabolism. Two affected children are reported in whom progressive metabolic instability suggested the possibility of hepatopathy or an ongoing hepatic mitochondrial injury. A percutaneous liver biopsy was performed in each patient. Electron‐microscopic findings were similar in both cases. Approximately 20% of the mitochondria were abnormally enlarged with paracrystalline inclusions and electron‐dense bodies of different sizes and shapes present in the matrix. The specificity of these findings is discussed in the context of previous reports of ultrastructural abnormalities in the hepatocytes of patients with inborn errors of the urea cycle. It is speculated that the mitochondrial abnormalities in citrullinaemia may be related to the accumulation of citrulline in the mitochondria which may eventually manifest as metabolic instability.
Kennedy disease
Authors: Fischbeck K. H. 
Published: December 2002

AbstractKennedy disease is a disorder with progressive motor neuron degeneration that is caused by trinucleotide repeat expansion in the androgen receptor gene. The disease mechanism likely involves toxicity of an expanded polyglutamine tract in the androgen receptor protein. This mechanism is probably shared by other neurodegenerative disorders with polyglutamine expansion, including Huntington disease. Attempts at reproducing the Kennedy disease phenotype by introducing the expanded androgen receptor into cultured neuronal cells and transgenic animals have thus far been unsuccessful, but recently developed model systems with other expanded polyglutamine constructs should allow the pathogenesis of these diseases to be elucidated.
Primary adrenal insufficiency in a child with a mitochondrial DNA deletion
Authors: Bruno C. , Minetti C. , Tang Y. , Magalhães P. J. , Santorelli F. M. , Shanske S. , Bado M. , Cordone G. , Gatti R. , DiMauro S. 
Published: December 2002

AbstractMitochondrial disorders can affect any organ system, but certain tissues, such as skeletal muscle, heart, and brain are more susceptible to oxidative phosphorylation defects because of their high energy requirements. Endocrinological manifestations, especially diabetes mellitus, are common but they rarely dominate the clinical picture. We describe a 5‐year‐old girl who died of primary adrenal insufficiency with a mitochondrial disease. Biochemical studies in muscle showed decreased respiratory chain enzyme activities. We detected a novel 7.0 kb mtDNA deletion in muscle from the proband, but not in her mother's white blood cells. Our findings further enlarge the spectrum of clinical presentation associated with mitochondrial DNA deletions.
Long‐chain polyunsaturated fatty acids in plasma and erythrocyte membrane lipids of children with phenylketonuria after controlled linoleic acid intake
Authors: Pöge A. P. , Bäumann K. , Müller E. , Leichsenring M. , Schmidt H. , Bremer H. J. 
Published: December 2002

AbstractIt has been reported that children with classical phenylketonuria (PKU) have reduced levels of arachidonic acid (AA, 20:4 n–6) and docosahexaenoic acid (DHA, 22:6 n–3) in plasma and membrane phospholipids compared to controls and may therefore require supplementation. However, it is not established that these changes are specific for PKU. They may as well be attributed to the specific composition of a largely vegetarian diet used for dietary PKU treatment. We therefore investigated the fatty acid composition of plasma phospholipids (PL), plasma cholesterol esters (CE), red blood cell phosphatidylcholine (PC), and red blood cell phosphatidylethanolamine (PE) in two groups of PKU patients including 8 children between 1 and 6 years (group A), 9 adolescents between 11 and 18 years (group B), and 20 age‐matched healthy controls. Group A had good dietary control (median plasma phenylalanine 272 μmol/L during the last 6 months before phospholipid analysis) while median phenylalanine in group B was 714 μmol/L (p<0.001). When compared to age‐matched controls, group A showed significantly lower DHA levels in PE (4.21 vs 5.85 weight% (wt%), p<0.01), in PC (1.02 vs 1.25 wt%, p<0.05) and in CE (0.25 vs 0.54 wt%, p<0.05). There was no significant difference of DHA between group B and controls. AA levels were similar in phospholipids of all groups. We conclude that reduced levels of long‐chain polyunsaturated fatty acids in PKU patients occur only in those patients with strict dietary therapy with respect to n–3 fatty acids, most probably caused by reduced intake of n–3 fatty acids.
Clinical heterogeneity and molecular mechanisms in inborn muscle AMP deaminase deficiency
Authors: Gross M. 
Published: December 2002

AbstractLack of the muscle‐specific isoform of AMP deaminase (myoadenylate deaminase deficiency) can cause a metabolic myopathy, with exercise‐induced muscle symptoms such as early fatigue, cramps and/or myalgia. It is the most common muscle enzyme defect in man, found in about 2‐3% of all muscle biopsies. The genetic basis of the inherited defect is the nonsense mutation C34‐T in the AMPD1 gene encoding myoadenylate deaminase. The mutation results in a premature stop of the enzyme synthesis. In a healthy German population, the frequency of the mutant allele was 0.1, and 1 % of this population is expected to be homozygous for the mutation. In people with muscle symptoms, the allele frequency was significantly higher (0.145). The correlation between allele frequency and muscle symptoms underscores the clinical significance of this defect. However, the vast majority of homozygous subjects do not develop a metabolic myopathy. This clinical heterogeneity may be due to molecular genetic factors such as alternative splicing of the exon harbouring the mutation, or due to metabolic conditions such as pathways compensating for the defect. The real basis for the high percentage of asymptomatic homozygous subjects remains to be revealed.
The effect of fasting, long‐chain triglyceride load and carnitine load on plasma long‐chain acylcarnitine levels in mitochondrial very long‐chain acyl‐CoA dehydrogenase deficiency
Authors: Costa C. G. , Dorland L. , Tavares de Almeida I. , Jakobs C. , Duran M. , Poll‐The B. T. 
Published: December 2002

AbstractWe studied a 10‐year‐old patient with very long‐chain acyl‐CoAdehydrogenase (VLCAD) deficiency who was originally (mis)diagnosed ashaving systemic carnitine deficiency. He was subjected to a fasting test, a long‐chain triglyceride (LCT) loading test (1.5 g/kg) and an intravenous carnitine clearance test (0.25 μmol/kg per min). Plasma acylcarnitines were analysed using a quantitative GC‐CI‐MS method. During fasting, all long‐chain acylcarnitines with a chain length of C14and higher (especially C14:1) increased dramatically. Total plasma long‐chain acylcarnitine reached a concentration of 28.6 μmol/L. LCT loading resulted in a moderate increase, mainly of the C18esters. The carnitine infusion, which led to a supranormal plasma free carnitine concentration, gave only a slight but generalized rise of long‐chain acylcarnitines. Although only one patient could be tested, the results suggest that the accumulation of potentially toxic long‐chain acylcarnitines in VLCAD deficiency is provoked by fasting, LCT loading and carnitine supplementation. Therapy should be adjusted accordingly.
Mutation analysis in the iduronate‐2‐sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)
Authors: Isogai K. , Sukegawa K. , Tomatsu S. , Fukao T. , Song X‐Q. , Yamada Y. , Fukuda S. , Orii T. , Kondo N. 
Published: December 2002

AbstractOur series of studies on Hunter disease in Japanese patients showed allelic heterogeneity of IDS gene mutations, genotype/phenotype correlation and racial differences in distribution of mutations. Twenty‐five different small mutations have been characterized. Small mutations in the Japanese population are widely distributed through the IDS gene, although some mutations were unevenly concentrated on exon 5 (28%) and on exon 9 (24%). Mutations were seen at the same codon 468 in exon 9 in 5 patients. These findings are in good agreement with data on other ethnic groups. Two unique mutations linked to a severe phenotype were apparently associated with aberrant splicings; one was a point mutation within exon 3 (P86L), partially activating a cryptic splice acceptor site at 28 bp downstream from the mutation site within exon 3 and producing a 44‐base truncated mRNA, and the other was a point mutation at the consensus sequence of the splice donor site of intron 2, causing exon 2 skipping.