bluuebunny/crossref_metadata_2025_split huggingface dataset:
Family functioning, coping, and psychological adjustment in victims and their families following kidnapping
Authors: Navia Carmen Elvira , Ossa Marcela 
Published: March 2003

AbstractThis study examines the psychological aftereffects of economic extortive kidnapping on families during captivity, and on kidnapped individuals and family members, 2–4, 5–8, and 9–15 months after the release. Fifty‐five kidnapped and released individuals and 158 family members were evaluated through CAPS‐DX, SCL90‐R, FAD, F‐COPES, and a family interview. Captivity was the most stressful period with the highest CAPS and general distress scores. There were no significant differences in psychological distress or in PTSD between the 3 time groups after the release or between kidnapped individuals and their relatives. Correlations among family functioning, coping, and psychological adjustment, during captivity and after the release were analyzed.
Glucose‐free medium exacerbatesmicrovesicular steatosis in cultured skin fibroblasts of genetic defects of fatty acid oxidation. A novel screening test
Authors: Renaud D. L. , Edwards V. , Wilson G. J. , Tein I. 
Published: March 2003

AbstractSkin fibroblasts from patients with various fatty acid oxidation defects (FAOD) and four normal controls were subcultured in standard glucose‐containing medium or in glucose‐free medium simulating fasting. The FAOD fibroblasts developed microvesicular steatosis, which was greatly exacerbated in glucose‐free medium. ‘Rescue treatment’ with glucose‐containing medium was performed in the short‐chain L‐3‐hydroxyacyl‐CoA dehydrogenase‐deficient (SCHADD) fibroblasts and resulted in a partial resolution of the steatosis and improved cellular viability. Transmission electron microscopy of autopsy specimens from the SCHADD patient demonstrated that most renal interstitial fibroblasts and ∼50% of fibroblasts in the heart had microvesicular steatosis. The demonstration of microvesicular steatosis in parenchymal and/or cultured skin fibroblasts may provide important and cost‐effective screening tools for the detection of genetic defects of fatty acid oxidation.
Emergency management of inherited metabolic diseases
Authors: Prietsch V. , Lindner M. , Zschocke J. , Nyhan W. L. , Hoffmann G. F. 
Published: March 2003

AbstractInherited metabolic diseases with acute severe manifestations can be divided into five categories: (1) disorders of the intoxication type, (2) disorders with reduced fasting tolerance, (3) disorders with disturbed energy metabolism, (4) disorders of neurotransmission and (5) disorders in which no specific emergency treatment is available. Diagnostic emergency laboratory evaluation should cover all differential diagnoses that are therapeutically relevant and should always include ammonia, glucose, lactate and acid–base status as well as testing the urine for ketones. These are indispensable for planning and conducting the first steps of metabolic emergency treatment and should be available within 30 min. According to the clinical situation and biochemical derangement, special metabolic investigations must be initiated in parallel. These include acylcarnitine profiling with tandem mass spectrometry (in plasma or dried blood spots) and analysis of amino acids in plasma and of organic acids in urine. The results of all laboratory investigations relevant to the diagnosis of metabolic disorders for which specific emergency therapy exists should be available within 24 h. There is general agreement with regard to some therapeutic strategies that are clearly explained by pathophysiology: in disorders with endogenous intoxication, anabolism must be promoted and specific detoxification measures initiated. In disorders with reduced fasting tolerance, administration of glucose at the rate of hepatic glucose production forms the basis of treatment. Correction of acidosis is a major goal in disorders with disturbed mitochondrial energy metabolism, while glucose supply may have to be limited. Many current therapeutic strategies are based on case reports and personal experiences at different metabolic centres. The aim of devising the ‘best’ management is often hampered by the lack of objective evidence of efficacy.
Simple method for detection of mutations causing hereditary fructose intolerance
Authors: Kullberg‐Lindh C. , Hannoun C. , Lindh M. 
Published: March 2003

AbstractAldolase B is critical for sugar metabolism, and a catalytic deficiency due to mutations in its gene may result in hereditary fructose intolerance (HFI) syndrome, with hypoglycaemia and severe abdominal symptoms. This report describes two cases of HFI, which were identified by intravenous fructose tolerance test and a new RFLP (restriction fragment length polymorphism) test that detects the two most common mutations, A149P and A174D. The method includes PCR of a 224‐base‐pair segment of exon 5, a subsequent 3 h incubation with Cac8I and agarose electrophoresis, which reveals either or both of the mutations in one single reaction. The method might be useful for screening of these mutations, which may account for more than 70% of the mutations causing HFI.
Mutation analysis of the acid ceramidase gene in Japanese patients with Farber disease
Authors: Muramatsu T. , Sakai N. , Yanagihara I. , Yamada M. , Nishigaki T. , Kokubu C. , Tsukamoto H. , Ito M. , Inui K. 
Published: March 2003

AbstractFarber disease is a rare lysosomal storage disease, characterized by the accumulation of ceramide in tissues due to acid ceramidase deficiency. Here we report the identification of three novel mutations in the acid ceramidase gene from two Japanese patients. Patient 1 showed joint problems at around 10 months of age and the patient is now emaciated, with multiple nodules and mild neurological problems at 10 years of age. Patient 2 had consanguineous parents and showed joint contractures at around 8 months of age. He showed neurological symptoms around 2 years of age and died at 6 years owing to respiratory failure. The diagnosis was made clinically and was confirmed by enzymatic assay of acid ceramidase. Molecular analysis of cultured skin fibroblasts showed normal mRNA levels expressed in both patients. By direct sequencing of cDNA, missense mutations of V97E in exon 4 and G235R in exon 9 were detected in patient 1 and 96delV in exon 4 was homozygously identified in patient 2. These mutations were also confirmed in genomic DNA. Expression of mutated acid ceramidase cDNA in COS‐1 cells showed acid ceramidase activity decreased to 35%, 2% and 37% of control value, respectively. We also found a new polymorphism V369I in exon 14 in the allele from the mother of patient 1. To date, 13 mutations, including our newly identified mutations, have been reported. All these mutations were genetically private and genotype–phenotype correlations could not be made.
Posttraumatic stress disorder and treatment seeking in a national screening sample
Authors: Koenen Karestan C. , Goodwin Renee , Struening Elmer , Hellman Fred , Guardino Mary 
Published: March 2003

AbstractThe behavioral model of service use was employed to identify predictors of mental health treatment seeking and treatment readiness among individual with PTSD (N = 2,713) in data from the 1996 National Anxiety Disorders Screening Day (NADSD). This model examines the contribution of predisposing (age, sex, marital status, race/ethnicity, education), enabling (employment, geographic location), perceived need (interference of symptoms with daily life), and evaluated need (other diagnoses) factors to treatment seeking and treatment readiness for individuals with PTSD. Results indicate that although need factors (interference by anxiety symptoms with daily life, diagnosis of panic disorder) are related to both receiving and readiness for treatment, predisposing (age, marital status, minority race) factors influence which individuals receive treatment for PTSD.
Hazardous alcohol use and treatment outcome in male combat veterans with posttraumatic stress disorder
Authors: Steindl Stanley R. , Young Ross McD. , Creamer Mark , Crompton David 
Published: March 2003

AbstractThe relationship between alcohol problems and posttraumatic stress disorder (PTSD) remains unclear. Six hundred and eight combat veterans diagnosed with PTSD were assessed for PTSD symptoms and alcohol problems prior to group cognitive–behavioral treatment. They were reassessed 3 and 9 months after treatment. Participants were classified into low‐risk and hazardous drinkers at each time point. Drinking status at intake did not predict PTSD symptoms at intake or follow‐up. However, drinking status was associated with PTSD symptoms when both were assessed at follow‐up. PTSD arousal symptoms were the only symptom cluster to differentiate drinking groups.
The Sydney Holocaust study: Posttraumatic stress disorder and other psychosocial morbidity in an aged community sample
Authors: Joffe Charmaine , Brodaty Henry , Luscombe Georgina , Ehrlich Frederick 
Published: March 2003

AbstractWe investigated the psychological status and social functioning of Holocaust survivors. From 814 responses to a community survey of Jewish elders (aged 60 years or older), survivors (n = 100), refugees who had not experienced the Holocaust (n = 50), and Australian/English‐born persons (n = 50), were randomly selected for semistructured interview, which included Posttraumatic Stress Disorder (PTSD) assessment, ratings on the General Health Questionnaire, Brief Psychiatric Rating Scale, Impact of Event Scale, Mini‐Mental Status Examination, and Instrumental Activities of Daily Living and Social Functioning. On all psychological measures, survivors were functioning worse than refugees and Australian/English‐born persons. The 3 groups were similar in social and instrumental functioning. The more severe the trauma the greater the level of psychological morbidity. Despite normal social and daily functioning, psychological morbidity following massive trauma endures.
Is the emotional Stroop paradigm sensitive to malingering? A between‐groups study with professional actors and actual trauma survivors
Authors: Buckley Todd C. , Galovski Tara , Blanchard Edward B. , Hickling Edward J. 
Published: March 2003

AbstractSix professional actors, trained by psychologists and acting coaches to feign PTSD, were covertly enrolled into a treatment outcome study for PTSD with the aim of investigating malingering. During pretreatment assessment, individuals completed an emotional Stroop task. Vocal response latencies to different classes of stimuli were examined for sensitivity to malingering. Actor response latencies were compared to those of 6 nonlitigant PTSD patients and 6 nonanxiety controls. The actor/dissimulation group was able to feign an overall slowing of response latency across stimulus types, similar to the PTSD group. However, they were unable to modulate response latency as a function of stimulus content, a pattern that characterized the PTSD group. The use of information‐processing paradigms to detect dissimulation is discussed.
Factor analysis of treatment response in posttraumatic stress disorder
Authors: Gaffney Michael 
Published: March 2003

AbstractFactor analysis is applied to the symptoms of posttraumatic stress disorder (PTSD) to reduce the multidimensional symptom space to 2 dimensions; 1 dimension strongly correlated with depressive symptoms and 1 independent dimension weakly correlated with depressive symptoms. These factors are used to assess whether the effectiveness of an antidepressant medication is due to its antidepressant effect. The treatment is shown to be effective in both dimensions. The factor analysis sheds light on the symptom structure of PTSD, supports PTSD as a distinct psychiatric disorder, and supports the current diagnostic criteria.
Billing and Record‐Keeping for Familial Cancer Risk Counseling: A National Survey
Authors: Bernhardt Barbara A. , Peshkin Beth N. , Kemel Yelena 
Published: March 2003

AbstractWe surveyed 111 genetic counselors providing cancer risk counseling (CRC) in order to document their billing and record‐keeping practices. Of the 75 respondents, billing was generally done under the supervising physician with a wide variation in charges. Follow‐up telephone interviews with 28 counselors who charge patients revealed that billing was usually done using the CPT codes for consultations, and the ICD‐9 diagnostic codes for cancer (if applicable), a medical complaint, or a family history of cancer code. Most counselors exclude some clinical information from the patient's medical record. In consultation notes, 81% of counselors document a discussion of genetic testing, but only 37% document the patient's actual testing decision, and only 19% document test results. In anticipation of increased referrals for CRC, data are needed on the components of a CRC visit, the amount of time required to provide CRC, patient outcomes measures, and charges and reimbursement. The feasibility and advisability of keeping results separate from the patient's medical record also needs to be addressed.
A multivariate model of patients' satisfaction with treatment for posttraumatic stress disorder
Authors: Fontana Alan , Ford Julian D. , Rosenheck Robert 
Published: March 2003

AbstractPrior studies have concluded that patients' pretreatment characteristics contribute more to their satisfaction with mental health treatment than any other domain. We expand the representation of treatment characteristics in an examination of satisfaction across both inpatient and outpatient settings. Data were drawn from an inpatient (n = 831) and an outpatient (n = 554) study of the treatment of PTSD. We used structural equation modeling to specify and evaluate a model of satisfaction with comparable elements for inpatient and both short and long‐term outpatient treatment. Results indicate that the quality and quantity of patients' participation in treatment were more important to the development of their satisfaction with treatment than their pretreatment characteristics. Among treatment characteristics, the social climate of the inpatient milieu and the focus on war traumas in outpatient therapy had major effects on the quality and quantity of patients' participation and their satisfaction.
Women's Understanding of Their Risk of Developing Breast/Ovarian Cancer Before and After Genetic Counseling
Authors: Hallowell Nina , Statham Helen , Murton Frances 
Published: March 2003

AbstractMany studies have reported that individuals frequently over‐ or underestimate their risk of developing cancer both before and after they attend genetic counseling for breast and/or ovarian cancer. Using a combination of interviews and written questionnaires, we investigated counselees' understanding of their risk of developing cancer before and after genetic counseling. We demonstrate that although 76% of the sample thought that their risk was elevated relative to women in general, only a small proportion (17%) were willing or able to provide a numerical estimate of their risk of developing cancer before they attended the clinic. Following the consultation, 43% indicated that their risk of developing cancer was lower than they had anticipated. Twenty‐two percent described their risk in absolute rather than relative terms, i.e., that they would definitely (not) develop cancer in the future. The implications of these findings for further research are discussed.
Identification and characterization of novel mutations of the aspartoacylase gene in non‐Jewish patients with Canavan disease
Authors: Zeng B. J. , Wang Z. H. , Ribeiro L. A. , Leone P. , De Gasperi R. , Kim S. J. , Raghavan S. , Ong E. , Pastores G. M. , Kolodny E. H. 
Published: March 2003

AbstractCanavan disease, an inherited leukodystrophy, is caused by mutationsin the aspartoacylase (ASPA) gene. It is most common among children of Ashkenazi Jewish descent but has been diagnosed in many diverse ethnic groups.Two mutations comprise the majority of mutant alleles in Jewish patients, while mutations in the ASPA gene among non‐Jewish patients are different and more diverse. In the present study, the ASPA gene was analysed in 22 unrelated non‐Jewish patients with Canavan disease, and 24 different mutations were found. Of these, 14 are novel, including five missense mutations (E24G, D68A, D249V, C152W, H244R), two nonsense mutations (Q184X, E214X), three deletions (923delT, 33del13, 244delA), one insertion mutation (698insC), two sequence variations in one allele ([10T > G; 11insG]), an elimination of the stop codon (941A > G, TAG → TGG, X314W), and one splice acceptor site mutation (IVS1 − 2A > T). The E24G mutation resulted in substitution of an invariable amino acid residue (Glu) in the first esterase catalytic domain consensus sequence. The IVS1 − 2A > T mutation caused the retention of 40 nucleotides of intron 1 upstream of exon 2. The results of transient expression of the mutant ASPA cDNA containing these mutations in COS‐7 cells and assays for ASPA activity of patient fibroblasts indicated that these mutations were responsible for the enzyme deficiency. In addition, patients with the novel D249V mutation manifested clinically at birth and died early. Also, patients with certain other novel mutations, including C152W, E214X, X314W, and frameshift mutations in both alleles, developed clinical manifestations at an earlier age than in classical Canavan disease.
Glutathione synthetase deficiency: Is γ‐glutamylcysteine accumulation a way to cope with oxidative stress in cells with insufficient levels of glutathione?
Authors: Ristoff E. , Hebert C. , Njålsson R. , Norgren S. , Rooyackers O. , Larsson A. 
Published: March 2003

AbstractGlutathione (GSH) plays a major role in the cellular defence against oxidative stress and other vital cellular functions. It therefore seems inevitable that patients with severe depletion of GSH will not survive. However, at least some with glutathione synthetase (GS) deficiency do. This study was done to determine whether these patients have a mechanism to compensate for their GSH deficiency. Cell‐free extracts of cultured fibroblasts from 9 patients with GS deficiency and 9 control subjects were analysed by HPLC for low‐molecular‐weight thiol compounds. The patients′ cells contained 7.4 nmol of GSH per mg of protein (median; range 2.8–25.2) compared to 33.0 nmol in control fibroblasts (range 26.7–51.4) (p<0.01). On the other hand, the patients′ cells accumulated 18.1 nmol of γ‐glutamylcysteine (γ‐GC) per mg of protein (median; range 6.9–71.7), whereas the control cells contained 0.1 nmol (range 0.05–0.16) (p<0.01). The cysteine concentrations in the patients′ cells were 20.7 nmol/mg protein (median; range 9.4–52.9) compared to 8.9 nmol in control cells (range 3.0–12.4) (p<0.01). Cultured fibroblasts from patients with GS deficiency have low levels of GSH, but instead accumulate γ‐GC. We suggest that γ‐GC, which contains both reactive groups of GSH (i.e. the sulphydryl and γ‐glutamyl groups), can compensate for GSH in the cellular defence against oxidative stress. Thus, γ‐GC may alleviate, but only partly prevent, serious consequences of insufficient GSH levels in affected patients. Since the sum of the levels of GSH and γ‐GC in GS‐deficient cells (median 31.5 nmol/mg protein, range 16.2–79.0) was similar to the level of GSH alone incontrol cells (33.0 nmol/mg protein, range 26.7–51.4), we propose that the cultured fibroblasts may have a mechanism to regulate in a coordinated way the levels of GSH and γ‐GC; for instance, by both compounds acting as feedback inhibitors of γ‐GC synthetase.
Biculturalism and Perceived Competence of Latino Immigrant Adolescents
Authors: Birman Dina 
Published: March 2003

AbstractThe present study investigated acculturation to the Hispanic and American cultures and self‐perceptions of competence among 123 Latino immigrant adolescents. The study tested a contextual model of biculturalism by examining whether different acculturation styles predicted perceived competence in life spheres with different cultural demands. Perceived competence was assessed using Harter's (1988) Self‐Perceptions of Competence Profile for Adolescents for the life spheres of school, peers (both Latino and non‐Latino), and global self‐worth. In addition, an analogous scale to assess perceptions of competence in the family was constructed for that sphere. The study found some support for a contextual model of acculturation. Acculturation to American culture predicted positive self‐perceptions of competence with American peers, while acculturation to Hispanic culture predicted positive self‐perceptions of competence with Latino peers. Perceived family competence, however, was predicted by acculturation to American rather than Hispanic culture. Results with respect to biculturalism are tentative, with a trend relating biculturalism to positive self‐perceptions of global self‐worth. However, because many of the conditions stipulated by the model were not met, results with respect to biculturalism raise questions about current approaches to operationalizing the construct.
Academic Achievement of African American Preadolescents: The Influence of Teacher Perceptions
Authors: Seyfried Sherri F. 
Published: March 2003

AbstractThe purpose of this study was to identify the factors associated with the academic success of predominantly, middle‐class African American preadolescent students. This study proposed an ecological model that considered the interaction of family environment, teacher perceptions of social skills, and student characteristics. The estimated model explained 58% of the variance in grade point average. Path analysis revealed three direct effects on grade point average, (a) grade level (negative), (b) teacher perceptions of social skills, and (c) academic ability. Findings revealed that teacher perceptions of social skills was a stronger predictor of grade point average than academic ability. Two indirect effects on grade point average were found. The first indirect effect was negative: gender predicted academic ability, which predicted teacher perceptions of social skills, which predicted grade point average. The second indirect effect was positive and it was from ability to teacher perceptions to grade point average. Implications for policy and practice are made that suggest a collaborative model of school counseling designed to “promote” the social and academic competence of African American students. Interventions that enhance teacher practices are also suggested.
Out on Campus: Sexual Orientation and Academic Climate in a University Context
Authors: Waldo Craig R. 
Published: March 2003

AbstractAlthough lesbian, gay, and bisexual (LGB) students often “come out” in university settings, empirical studies have demonstrated that these environments are often hostile toward them. The current paper posits that such hostile contexts adversely affect their educational experiences. Results from a survey of a stratified random sample of 1,927 undergraduate and graduate students on a scale measuring perceptions of academic climate (General Campus Climate) supported this claim: LGB students had more negative perceptions of a variety of campus factors. In addition, a scale measuring perceptions of Lesbian, Gay, and Bisexual Campus Climate found that LGB students were more likely than heterosexuals to perceive the campus as inhospitable to LGB people. Women and racial and ethnic minorities were also more likely to rate the LGB climate as hostile. Finally, data from two scales measuring attitudes believed to influence these perceptions yielded gender, racial/ethnic, religious, and sexual orientation differences in theoretically meaningful directions. Results indicate that LGB students often experience the university in more negative ways than heterosexual students, and that certain campus communities— particularly women and racial/ethnic minorities—are more aware of this negativity and contribute to it less because of their relatively more progay attitudes. Implications for how to improve LGB students' experiences are discussed.