bluuebunny/crossref_metadata_2025_split huggingface dataset:
Applications of mass spectrometry in the study of inborn errors of metabolism
Authors: Clayton P. T. 
Published: December 2002

AbstractDuring the twentieth century, and particularly in its last decade, there have been major advances in mass spectrometry (MS). As a result, MS remains one of the most powerful tools for the investigation of genetic metabolic disease. Analysis of organic acids by gas chromatography–mass spectrometry (GC‐MS) and analysis of acylcarnitines by tandem mass spectrometry are still leading to the discovery of new disorders. Tandem mass spectrometry is increasingly being used for neonatal screening. New methods for lipid analysis have opened up the fields of inborn errors of cholesterol synthesis, of bile acid synthesis and of leukotriene synthesis. The latest developments in MS allow it to be used for determination of the amino acid sequence and posttranslational modifications of proteins. There are still some major hurdles to be overcome, but soon it should be possible to detect mutant proteins directly rather than by cDNA or genomic DNA analysis. Measurement of which proteins are overexpressed and underexpressed (‘proteomics’) should provide further information on the pathogenesis of complications of inborn errors, e.g. hepatic cirrhosis. The use of stable isotopes in conjunction with MS allows us to probe metabolic pathways. As an example, evidence is presented to support the contention that vitamin E and its oxidation product are catabolized by peroxisomal β‐oxidation. Mass spectrometry also has a major role in monitoring new forms of treatment for inborn errors.
A structural hypothesis for BH4 responsiveness in patients with mild forms of hyperphenylalaninaemia and phenylketonuria
Authors: Erlandsen H. , Stevens R. C. 
Published: December 2002

AbstractDeficiencies in the human enzyme phenylalanine hydroxylase (PAH) due to mutations in the PAH gene (PAH) result in the inborn error of metabolism phenylketonuria (PKU). The clinical symptom of this disease is an elevated concentration of L‐phenylalanine (L‐Phe) in blood serum. To prevent mental retardation due to the buildup of neurotoxic metabolites of L‐Phe, patients with severe PKU must be treated with a low‐L‐Phe diet starting early in their life. Owing to extensive newborn screening programmes and genotyping efforts, more than 400 different mutations have been identified in the PAH gene. Recently, there have been several reports of PKU patients showing a normalization of their L‐Phe concentrations upon oral administration of the natural cofactor to PAH, (6R)‐L‐erythro‐5,6,7,8‐tetrahydrobiopterin (BH4). In an attempt to correlate the clinical responsiveness to BH4 administration with PKU genotype, we propose specific structural consequences for this subset of PAH mutations. Based on the location and proximity of this subset of mutations to the cofactor‐binding site in the three‐dimensional structure of PAH, a hypothesis for BH4 responsiveness in PKU patients is presented. It is believed that some of these mutations result in expressed mutant enzymes that are Km variants (with a lower binding affinity for BH4) of the standard PAH enzyme phenotype. Oral administration of excess BH4 thus makes it possible for these mutant enzymes to suppress their low binding affinity for BH4, enabling this subset of PAH mutations to perform the L‐Phe hydroxylation reaction. Most of the BH4‐responsive PAH mutations map to the catalytic domain of PAH in either of two categories. Residues are located in cofactor‐binding regions or in regions that interact with the secondary structural elements involved in cofactor binding. Based on the series of known mutations that have been found to be responsive to BH4, we propose that other subsets of PAH mutations will have a high likelihood of being responsive to oral BH4 administration.
Building Value‐Based Partnerships: Toward Solidarity With Oppressed Groups
Authors: Nelson Geoffrey , Prilleltensky Isaac , MacGillivary Heather 
Published: December 2002

AbstractWe propose a value‐based conceptualization of partnership, defining partnership as relationships between community psychologists, oppressed groups, and other stakeholders, which strive to achieve key community psychology values (caring, compassion, community, health, self‐determination, participation, power‐sharing, human diversity, and social justice). These values guide partnership work related to the development of services or supports, coalitions and social action, and community research and program evaluation. We prescribe guidelines for building such partnerships and conclude by considering some of the challenges in implementing value‐based partnerships.
How Urban African American Young Adolescents Spend Their Time: Time Budgets for Locations, Activities, and Companionship
Authors: Larson Reed W. , Richards Maryse H. , Sims Belinda , Dworkin Jodi 
Published: December 2002

AbstractThe time budgets of a population of youth provide important information about their daily experience and socialization. This study reports data on the time budgets of a sample of 253 urban African American poor to working‐ and middle‐class 5th–8th graders in Chicago. These youth were found to spend less time in school than other postindustrial adolescent populations, but spent no less time doing homework than White suburban U.S. young adolescents. They spent large quantities of time at home and with their families—at rates comparable to rates for young adolescents in a society with collectivist values like India. Unlike with other populations, early adolescence was not associated with major age changes in time allocations. Amount of time in schoolwork did not differ by grade, and amount of time with family did not show the decline with age that has been found for European American suburban adolescents.
Collaborating for Social Change: The Black Psychologist and the Black Community
Authors: Jordan Lisa C. , Bogat G. Anne , Smith Gloria 
Published: December 2002

AbstractSeveral prominent Black scholars have argued that the predicament of Black intellectuals is inseparable from that of Black communities (C. West, 1994), and that Black psychologists should be at the forefront in developing culturally relevant psychological interventions (J. A. Baldwin, 1989). Yet, for Black psychologists there are a number of challenges to conducting successful interventions in Black communities, including historical abuses of Black communities by the “helping” professions and divergences in values, goals, and behaviors of professionals as compared to community members. In order for community psychologists to design interventions that are respectful of the cultural traditions and norms of Black communities, these obstacles to collaboration need to be addressed. This paper outlines some of the challenges faced by Black community psychologists, as well as the unique strengths they can mobilize when collaborating on research and interventions in Black communities. The paper also addresses methods of empowering Black communities and improving the training of community psychologists.
The intellectual abilities of early‐treated individuals with pyridoxine‐nonresponsive homocystinuria due to cystathionine β‐synthase deficiency
Authors: Yap S. , Rushe H. , Howard P. M. , Naughten E. R. 
Published: December 2002

AbstractThe pathological sequelae of untreated homocystinuria due to cystathionine β‐synthase deficiency include ectopia lentis, osteoporosis, thromboembolic events and mental retardation. They occur at a significantly higher rate with poorer mental capabilities (mean IQ = 57) in the untreated pyridoxine‐nonresponsive individuals. The mental capabilities of 23 pyridoxine‐nonresponsive individuals with 339 patient‐years of treatment were assessed using age‐appropriate psychometric tests and were compared to those of 10 unaffected siblings (controls). Of the 23 individuals, 19 were diagnosed through newborn screening with early treatment, two were late‐detected and two were untreated at the time of assessment. Thirteen of the newborn, screened group who were compliant with treatment had no complications, while the remaining 6, who had poor compliance, developed complications. Good compliance was defined by a lifetime plasma free homocystine median < 11 μmol/L. The newborn screened, good compliance group (n = 13) with a mean age of 14.4 years (range 4.4–24.9) had mean full‐scale IQ (FIQ) of 105.8 (range 84–120), while the poorly compliant group (n = 6) with a mean age of 19.9 years (range 13.8–25.5) had a mean FIQ of 80.8 (range 40–103). The control group (n = 10) with mean age of 19.4 years (range 9.7–32.9) years had a mean FIQ of 102 (range 76–116). The two late‐detected patients aged 18.9 and 18.8 years had FIQ of 80 and 102, while the two untreated patients aged 22.4 and 11.7 years had FIQ of 52 and 53, respectively. There was no statistical evidence of significant differences between the compliant, early‐treated individuals and their unaffected siblings (controls) except for the FIQ, which was significantly higher than that of the unaffected siblings (p = 0.0397). These data, despite the relatively small numbers, suggest that early treatment with good biochemical control (lifetime plasma free homocystine median < 11 μmol/L) seems to prevent mental retardation.
Tetrahydrobiopterin‐responsive phenylalanine hydroxylase deficiency in Dutch neonates
Authors: Spaapen L. J. M. , Bakker J. A. , Velter C. , Loots W. , Rubio‐Gonzalbo M. E. , Forget P. P. , Dorland L. , De Koning T. J. , Poll‐The B. T. , Ploos Van Amstel H. K. , Bekhof J. , Blau N. , Duran M. 
Published: December 2002

AbstractFour neonates with a positive phenylalanine screening test (Phe concentrations between 258 and 1250 μmol/L) were investigated further to differentiate between phenylalanine hydroxylase (PAH) deficiency and variant hyperphenylalaninaemia (HPA) forms. In patients 1 and 2 a tetrahydrobiopterin (BH4) load caused a significant decrease of the plasma Phe levels. A combined phenylalanine/BH4 loading test was performed in patients 2, 3 and 4. In the latter two patients, plasma Phe concentrations completely normalized within 8 h after the BH4 load (20 mg/kg). Basal urinary pterins were normal in all four patients. The activity of dihydropteridine reductase (DHPR) was normal in patients 1, 2 and 3 and 50% of control values in patient 4 (not in the range of DHPR‐deficient patients). In patient 3 a subsequent phenylalanine loading test with concomitant analysis of plasma biopterins revealed a normal increase of biopterin, excluding a BH4 biosynthesis defect. Pterins and neurotransmitter metabolites in CSF of patients 1, 3 and 4 were normal. DNA mutations detected in the PAH gene of patients 1–4 were A313T, and L367fsinsC; V190A and R243X; A300S and A403V; R241C and A403V. The results are suggestive for mutant PAH enzymes with decreased affinity for the cofactor BH4.
PTSD symptoms and partner abuse: Low income women at risk
Authors: Vogel Laura C. M. , Marshall Linda L. 
Published: December 2002

AbstractAspects of partner abuse (types, severity, chronicity, treatment of injury, fear, etc.) were addressed with low income community women, half of whom scored above the cutoff on the Crime Related PTSD scale. Using this cutoff, 47% of women who sustained moderate violence were high in CR‐PTSD symptoms. If their partner also raped them, the rate (63%) was similar to women who sustained severe violence (65%) or severe violence and rape (71%). No ethnic differences were found for rates or severity of CR‐PTSD symptoms. A MANCOVA by ethnicity (African Americans, Euro‐Americans, Mexican Americans) and CR‐PTSD symptoms (low vs. high) identified ethnic differences only on total sexual aggression and recent threats of violence. The high symptom group reported more abuse on all measures. Results from the CR‐PTSD and the general lack of ethnic differences support the notion that SES contributes more to women's vulnerability to abuse and stress symptoms than does ethnicity.
Posttraumatic stress disorder in rape victims: Autonomic habituation to auditory stimuli
Authors: Rothbaum Barbara Olasov , Kozak Michael J. , Foa Edna B. , Whitaker Daniel J. 
Published: December 2002

AbstractImpaired capacity for physiological habituation may contribute to the persistence of PTSD. Habituation ofautonomic responses to auditory tones was examined in 43 women in three groups: 14 adult female rape survivors with chronic PTSD, 11 without PTSD, and a comparison group of 18 who had not been raped. There were no significant differences among the groups in baseline cardiac or electrodermal activity. The PTSD group showed significantly slower electrodermal habituation, as measured by trials to extinction and percentage of nonhabituators, than did the comparison groups. The present study found slower habituation of electrodermal responses for PTSD rape victims to neutral stimuli than for non‐PTSD victims and nonvictims.
Child sexual abuse, peer sexual abuse, and sexual assault in adulthood: A multi‐risk model of revictimization
Authors: Maker Azmaira Hamid , Kemmelmeier Markus , Peterson Christopher 
Published: December 2002

AbstractThis study explored the predictors and consequences of sexual assault occurring after the age of 16 years in a nonclinical sample of women. Child sexual abuse occurring before the age of 16 years was the only predictor of later sexual assault among comorbid risk factors. Peer sexual abuse, number of perpetrators, age at time of sexual abuse, and severity of sexual abuse did not increase the risk for later sexual assault. Adult sexual assault victims showed lower levels of mental health functioning than did survivors of child or peer sexual abuse. We discuss a specificity model of revictimization and the differential effects of child, peer, and adult sexual trauma on the developmental trajectory of sexual violence and psychosocial functioning.
Remaining problems in the management of patients with Gaucher disease
Authors: Erikson A. 
Published: December 2002

AbstractThe history of treatment of Gaucher disease started with splenectomy and continued with bone marrow transplantation, before the recent introduction of enzyme replacement therapy. Although the latter has revolutionized the prognosis of patients, many questions remain to be answered and clinical management problems resolved. These include how to monitor enzyme replacement to determine the optimal dosage, how to treat mild disease, whether intermittent treatment is an option, and the causes of the neurological signs and how to treat them. The pulmonary hypertension problem has also not been resolved, and we need to determine how to treat and monitor bone disease. In addition, the future role of substrate deprivation needs to be determined, and further research is required before gene therapy becomes a potential clinical option. The high cost of enzyme replacement treatment for Gaucher disease remains an important issue.
Renal disease in Fabry patients
Authors: Grünfeld J.‐P. , Lidove O. , Joly D. , Barbey F. 
Published: December 2002

AbstractRenal dysfunction is a major complication in hemizygous males with Fabry disease. This often results in end‐stage renal failure (ESRF), requiring dialysis or transplantation, on average 10 years after the start of renal impairment. ESRF usually occurs between 40 and 50 years of age, but may occur much earlier. Although progression of renal disease can be rapid, it is variable and may depend on whether there is residual α‐galactosidase enzyme activity and on environmental or genetic factors. Significant renal disease is much less common in women carriers of the disease. However, renal changes do occur, which may progress to ESRF as in male patients.
Characterization of altered myocardial fatty acid metabolism in patients with inherited cardiomyopathy
Authors: Bergmann S. R. , Herrero P. , Sciacca R. , Hartman J. J. , Rubin P. J. , Hickey K. T. , Epstein S. , Kelly D. P. 
Published: December 2002

AbstractInherited defects in myocardial long‐chain fatty acid metabolism are increasingly recognized as a cause of cardiomyopathy and sudden death in children. To evaluate whether the phenotypic expression of these genetic diseases could be delineated using positron emission tomography (PET), 11 patients with inherited defects in fatty acid metabolism were evaluated and results were compared with those of 6 nonaffected siblings. Myocardial perfusion, myocardial oxygen consumption (MVO2), and long‐chain fatty acid metabolism were determined noninvasively with PET using quantitative mathematical models. There were no differences in haemodynamics, perfusion, MVO2 or plasma substrate levels between groups. Patients with defects in enzymes of fatty acid β‐oxidation (acyl‐CoA dehydrogenase and 3‐hydroxyacyl‐CoA dehydrogenase deficiencies) n = 5 had diminished myocardial palmitate oxidation compared with healthy siblings (3.2 ± 3.0 vs 13.0 ± 5.6 nmol/g per min, p < 0.03) and a decrease in the percentage of MVO2 accounted for by palmitate (2% ± 3% vs 9% ± 5%), p > 0.04). In these patients, extracted palmitate was shunted into a slow‐turnover compartment (predominantly reflecting esterification to triglycerides) with expansion of palmitate in that pool (185 ± 246 compared with 27 ± 67 nmol/g in healthy siblings, p < 0.02). In contrast, myocardium of patients with carnitine deficiency (n = 6 (all on oral carnitine therapy) had normal palmitate extraction but expansion of the interstitial/cytosolic fatty acid pool (617 ± 399 vs 261 ± 73 nmol/g in healthy siblings, p < 0.04), suggesting different mechanisms for handling upstream fatty acyl intermediates. Thus, PET can be used to noninvasively assess abnormal myocardial handling of fatty acids in patients with inherited defects of metabolism. This approach should be useful in the assessment of altered myocardial fatty acid metabolism associated with cardiomyopathy as well as for evaluating the efficacy of therapeutic interventions in affected patients.
The relationship of sleep quality and posttraumatic stress to potential sleep disorders in sexual assault survivors with nightmares, insomnia, and PTSD
Authors: Krakow Barry , Germain Anne , Warner Teddy D. , Schrader Ron , Koss Mary , Hollifield Michael , Tandberg Dan , Melendrez Dominic , Johnston Lisa 
Published: December 2002

AbstractSleep quality and posttraumatic stress disorder (PTSD) were examined in 151 sexual assault survivors, 77% of whom had previously reported symptoms of sleep‐disordered breathing (SDB) or sleep movement disorders (SMD) or both. Participants completed the Pittsburgh Sleep Quality Index (PSQI) and the Posttraumatic Stress Scale (PSS). High PSQI scores reflected extremely poor sleep quality and correlated with PSS scores. PSQI scores were greater in participants with potential SDB or SMD or both. PSQI or PSS scores coupled with body‐mass index and use of antidepressants or anxiolytics predicted potential sleep disorders. The relationship between sleep and posttraumatic stress appears to be more complex than can be explained by the current PTSD paradigm; and, sleep breathing and sleep movement disorders may be associated with this complexity.
Relationships among alcohol use, hyperarousal, and marital abuse and violence in Vietnam veterans
Authors: Savarese Vincent W. , Suvak Michael K. , King Lynda A. , King Daniel W. 
Published: December 2002

AbstractAlcohol use (frequency and quantity) and the hyperarousal feature of PTSD were examined in relation to male‐perpetrated marital abuse and violence using data from 376 couples who participated in the National Vietnam Veterans Readjustment Study. Veteran's self‐reported hyperarousal was significantly associated with partner's report of physical violence and psychological abuse toward her. Differential relationships were found between veteran's self‐reported drinking frequency and drinking quantity and the outcomes; of the two components, only the average quantity consumed per occasion was independently related to husband‐to‐wife violence. Moreover, a complex interaction emerged between hyperarousal and the two dimensions of alcohol consumption in predicting violence, with the relationship between hyperarousal and violence varying as a function of both drinking frequency and drinking quantity.
The childhood trauma questionnaire in a community sample: Psychometric properties and normative data
Authors: Scher Christine D. , Stein Murray B. , Asmundson Gordon J. G. , McCreary Donald R. , Forde David R. 
Published: December 2002

AbstractInterpretation of research on the prevalence and sequelae of childhood trauma has been hindered by the use of assessment instruments with unknown psychometric properties. Thus, we examined the psychometric properties of a new childhood trauma measure, the Childhood Trauma Questionnaire (CTQ). The CTQ has demonstrated strong psychometric properties in clinical samples; limited information exists on its psychometric properties in community samples. Therefore, we explored the factor structure and reliability of the CTQ in a community sample and calculated normative data. Consistent with previous literature, a 5‐factor model best described the CTQ, with a hierarchical model also providing excellent fit. Additionally, the CTQ demonstrated acceptable internal consistency. Overall, our findings suggest that the CTQ is appropriate for use in a community sample.
Psychophysiological reactivity in female sexual abuse survivors
Authors: McDonagh‐Coyle Annmarie , McHugo Gregory J. , Friedman Matthew J. , Schnurr Paula P. , Zayfert Claudia , Descamps Monica 
Published: December 2002

AbstractThis study examined psychophysiological reactivity in 37 female childhood sexual abuse (CSA) survivors. After assessment of posttraumatic stress disorder (PTSD), psychiatric comorbidity, and trauma history, we conducted a psychophysiological assessment of forehead muscle tension, electrodermal activity, and heart rate during a mental arithmetic task and 4 script‐driven imagery tasks (neutral, consensual sex, pleasant, and trauma). PTSD symptom severity correlated positively with psychophysiologic changes and negative emotions during the trauma imagery task. During mental arithmetic, PTSD symptom severity correlated negatively with autonomic changes and positively with negative emotions. These results extend earlier PTSD research showing trauma‐specific increased psychophysiological reactivity related to CSA in women with PTSD. They further suggest a negative association between PTSD severity and autonomic reactions to mental arithmetic.
An extensible application for assembling annotation for
genomic data
Authors: Zhang Jianhua , Carey Vincent , Gentleman Robert 
Published: December 2002

Abstract
Summary: AnnBuilder is an R package for assembling genomic annotation data. The system currently provides parsers to process annotation data from LocusLink, Gene Ontology Consortium, and Human Gene Project and can be extended to new data sources via user defined parsers. AnnBuilder differs from other existing systems in that it provides users with unlimited ability to assemble data from user selected sources. The products of AnnBuilder are files in XML format that can be easily used by different systems.
Availability: (http://www.bioconductor.org). Open source.
Contact: jzhang@jimmy.harvard.edu
* To whom correspondence should be addressed.
Detection of hydrogen-bond signature patterns in protein families
Authors: Prasad Tejasvini , Prathima M. N. , Chandra Nagasuma 
Published: December 2002

Abstract
Summary: We have developed a WWW server, HBPRINT, for the identification of hydrogen–bond signature patterns in protein families from their structures. The server calculates (a) common hydrogen bonds between two structures (b) a hydrogen-bond fingerprint in a set of structural neighbours and (c) details of conserved hydrogen bonds. The server also enables the visualization of the hydrogen bond network comprising the signature pattern.
Availability: HBPRINT and a tutorial are available from http://144.16.93.115/hb_page/index.html
Contact: nchandra@physics.iisc.ernet.in
* To whom correspondence should be addressed.