bluuebunny/crossref_metadata_2025_split huggingface dataset:
Extended investigation of tau and mutation screening of other candidate genes on chromosome 17q21 in a Swedish FTDP‐17 family
Authors: Froelich Fabre Susanne , Axelman Pia , Almkvist Åsa , Basun Hans , Lannfelt Lars 
Published: July 2003

AbstractFrontotemporal dementia and Parkinsonism linked to chromosome 17 (FTDP‐17) is an autosomal dominant condition clinically characterized by behavioral, cognitive and motor disturbances. It was recently discovered that the majority of the FTDP‐17 families carry missense or 5′ splice mutations in the exons coding for the microtubule‐binding domains of the tau protein. However, in at least five FTDP‐17 families, no such mutations could be identified. In the present study, we aimed at further investigate abnormalities in the tau gene in a Swedish FTDP‐17 family, where no mutations in the tau gene previously have been identified. Initially, we searched for larger deletions by Southern blot hybridization. Furthermore, possible abnormal splicing events was investigated by RT‐PCR from brain tissue of affected individuals. In addition, we investigated the presence of mutations in other genes in the FTDP‐17 candidate region on chromosome 17q21; Gamma‐tubulin, Glial Fibrillary Acid Protein (GFAP), Human dual specificity phosphatase tyrosine/serine (VHR), Rap‐interacting protein 8 (RPIP8), P35, and the recently identified FTDCG1. In conclusion, no pathological changes in the tau gene were observed, neither was any mutations segregating with the disease detected in the investigated candidate genes. Further investigation of extended intron sequences or promoter regions of the tau gene and additional candidate genes on chromosome 17q21, therefore seems to be necessary in order to identify the additional causes of FTDP‐17. © 2003 Wiley‐Liss, Inc.
Segregation analysis of phenotypic components of learning disabilities. II. Phonological decoding
Authors: Chapman Nicola H. , Raskind Wendy H. , Thomson Jennifer B. , Berninger Virginia W. , Wijsman Ellen M. 
Published: July 2003

AbstractDyslexia is a common, complex disorder, which is thought to have a genetic component. The study of the genetics of dyslexia is complicated by a lack of consensus on diagnostic criteria, and the probability of genetic heterogeneity—it is possible that deficits in different language processes are caused by different underlying genes. In order to address these difficulties, we study continuous phenotypes that are part of the psychometric test batteries often used to diagnose dyslexia. Prior to embarking on a linkage study, it is helpful to employ segregation analysis, both to identify phenotypes that may be amenable to mapping by linkage analysis, and to determine the best models to use for model based analyses. We study 409 people in 102 nuclear families, and employ (1) oligogenic segregation analysis to estimate the number of quantitative trait loci (QTLs) contributing to each phenotype, and (2) complex segregation analysis in order to identify the most parsimonious inheritance model. In this paper, we consider two measures of phonological decoding ability—word attack and phonemic decoding efficiency. We find evidence for one or two genes of at least modest effect contributing to phonemic decoding efficiency, and the best fitting model is a dominant major gene model with residual familial correlations. For word attack, we find evidence for one or two genes of at least modest effect, and the variation in the trait is best explained by a polygenic model. © 2003 Wiley‐Liss, Inc.
Multipoint and single point non‐parametric linkage analysis with imperfect data
Authors: Sullivan Patrick F. , Neale Benjamin M. , Neale Michael C. , van den Oord Edwin , Kendler Kenneth S. 
Published: July 2003

AbstractWe used simulation to explore the impact of common data imperfections (i.e., missing parents, genotyping error, map error, and missing genotypes) upon the performance of multipoint and single point linkage analysis in the analyses of linkage data from pairs of siblings affected with an idealized complex trait. The performance of single point and multipoint linkage was similar under an unrealistic best case scenario; however, when four data imperfections were combined, the performance of single point linkage analysis appeared to be superior to multipoint. The absence of parental genotypes in the presence of 1% genotype error led to marked degradation of linkage signal, particularly for multipoint analyses. © 2003 Wiley‐Liss, Inc.
Linkage and association between serotonin 2A receptor gene polymorphisms and bipolar I disorder
Authors: Ranade Swati S. , Mansour Hader , Wood Joel , Chowdari Kodavali V. , Brar Laurie K. , Kupfer David J. , Nimgaonkar Vishwajit L. 
Published: July 2003

AbstractSeveral inconsistent associations between bipolar I disorder (BD1) and polymorphisms of the genes encoding the serotonin 2A receptor (HTR2A) have been published. We conducted the Transmission Disequilibrium Test (TDT) and case‐control comparisons involving nine single nucleotide polymorphisms at the serotonin 2A receptor gene (four SNPs of HTR2A exons and five flanking SNPs). Comparison of BD1 cases (n = 93) with a group of unrelated population based controls (n = 92) revealed associations with SNPs on exons 2 and 3 (516C/T and 1354C/T, respectively), consistent with haplotype‐based differences. Analysis of the cases and their available parents using the TDT suggested significant linkage and associations with 1354C/T, as well as haplotypes bearing this SNP. Our results support an etiological role for HTR2A in BD1. In view of the relatively small sample, replicate studies using large samples are needed. © 2003 Wiley‐Liss, Inc.
Association of the 480 bp DAT1 allele with methylphenidate response in a sample of Irish children with ADHD
Authors: Kirley Aiveen , Lowe Naomi , Hawi Ziarih , Mullins Celine , Daly Grainne , Waldman Irwin , McCarron Mary , O'Donnell Deirdre , Fitzgerald Michael , Gill Michael 
Published: July 2003

AbstractSeveral studies have implicated the dopamine transporter gene (DAT1) as conferring susceptibility to attention deficit hyperactivity disorder (ADHD), in particular, a VNTR situated at the 3′ end of the gene. In addition, the 10‐repeat VNTR allele associated with ADHD has been reported to be associated with an over‐active transporter protein (DAT). Thus children possessing this variant might be particularly responsive to methylphenidate, a drug known to act by blocking DAT. We have examined this hypothesis and now report an association between the 10‐repeat VNTR DAT1 polymorphism and retrospectively rated methylphenidate response in a sample of 119 Irish children with ADHD (χ2 = 7.918, df = 1, P = 0.005). Our findings suggest a role for the 10‐repeat DAT1 risk allele in medication response and may help to predict positive clinical outcome in ADHD. © 2003 Wiley‐Liss, Inc.
Bayesian analysis of a previously published genome screen for panic disorder reveals new and compelling evidence for linkage to chromosome 7
Authors: Logue Mark W. , Vieland Veronica J. , Goedken Rhinda J. , Crowe Raymond R. 
Published: July 2003

AbstractThis article presents a Bayesian re‐analysis of a linkage study of panic disorder Crowe et al. [2001: Am J Med Genet (Neuropsychiatr Genet) 105:105–109]. In the initial analysis Crowe et al. failed to find compelling evidence for linkage based on either LOD scores or NPL scores anywhere in the genome. The maximum LOD score was 2.23 on chromosome 7 at marker D7S2846 (57.79 cM according to Marshfield). Over the past several years we have been developing a Bayesian alternative approach to linkage analysis, based on direct measurement of the posterior probability of linkage (PPL), and have shown elsewhere that this approach has several advantages over the available alternatives for mapping complex‐disease genes Vieland [1998: Am J Med Genet 63:947–954]; Wang et al. [1999: Genet Epidemiol 17(Suppl 1):S749–S754]; Wang et al. [2000: Ann Hum Genet 64:533–553]; and Vieland et al. [2001: Hum Hered 51:199–208]. One limitation of this approach in previous applications has been that it required the investigator to specify a fixed genetic model for the trait. We employ a new implementation of the PPL that treats the unknown trait model as a vector of nuisance parameters, which is integrated out of the PPL equation. When we apply this new model‐integrated version of the PPL to the data of Crowe et al. [2001: Am J Med Genet (Neuropsychiatr Genet) 105:105–109] we obtain much clearer evidence than previously reported for a locus on chromosome 7, with an 80% probability of linkage to marker D7S521. A second location is also identified on chromosome 16 near marker D16S749 (PPL = 24%). The results for the remainder of the genome are consistently low. The two loci identified here are also supported by independent evidence from other studies. © 2003 Wiley‐Liss, Inc.
Does fear of coercion keep people away from mental health treatment? Evidence from a survey of persons with schizophrenia and mental health professionals
Authors: Swartz Marvin S. , Swanson Jeffrey W. , Hannon Michael J. 
Published: July 2003

AbstractMental health consumer advocates have long argued that involuntary treatment frightens persons with mental disorder and thus deters them from voluntarily seeking help. We surveyed 85 mental health professionals and 104 individuals with schizophrenia spectrum conditions to assess their experience with and perceptions of involuntary treatment and other treatment mandates. Of the clinicians, 78% reported that overall they thought legal pressures made their patients with schizophrenia more likely to stay in treatment. Regarding involuntary outpatient commitment, 81% of clinicians disagreed with the premise that mandated community treatment deters persons with schizophrenia from seeking voluntary treatment in the future. Of the consumer sample, 63% reported a lifetime history of involuntary hospitalization, while 36% reported fear of coerced treatment as a barrier to seeking help for a mental health problem—termed here “mandated treatment‐related barriers to care.” In bivariate analyses, reluctance to seek outpatient treatment associated with fear of coerced treatment (mandated treatment‐related barriers to care) was significantly more likely in subjects with a lifetime history of involuntary hospitalization, criminal court mandates to seek treatment, and representative payeeship. However, experience with involuntary outpatient commitment was not associated with barriers to seeking treatment. Recent reminders or warnings about potential consequences of treatment nonadherence, recent hospitalization, and high levels of perceived coercion generally were also associated with mandated treatment‐related barriers to care. In multivariable analyses, only involuntary hospitalization and recent warnings about treatment nonadherence were found to be significantly associated with these barriers. These results suggest that mandated treatment may serve as a barrier to treatment, but that ongoing informal pressures to adhere to treatment may also be important barriers to treatment. Copyright © 2003 John Wiley & Sons, Ltd.
The antecedents of aggressive behavior among men with schizophrenia: a prospective investigation of patients in community treatment
Authors: Hodgins Sheilagh , Hiscoke Ulrika L. , Freese Roland 
Published: July 2003

AbstractThe association between psychotic symptoms and violence is unclear, due in part to methodological features of investigations that have examined this question, and in part to the fact that the association likely differs by disorder and treatment conditions. Using data from The Comparative Study of the Prevention of Crime and Violence by Mentally Ill Persons, we examined 128 men with schizophrenia or schizoaffective disorder discharged from general and forensic psychiatric hospitals in Canada, Finland, Germany, and Sweden. The association between symptoms and aggressive behavior was studied during two 6 month periods when the patients lived in the community. Severe positive and negative symptoms of psychosis, depression, and anxiety were measured at the beginning of each of the 6 month periods. In addition, at the beginning of the second 6 month period changes in symptoms in the previous period were indexed. Aggressive behavior was measured in each 6 month period by reports from patients and from collaterals. During the first 6 months post‐discharge, after controlling for the presence of antisocial personality disorder or PCL score and past diagnoses of alcohol/drug abuse/dependence, the presence of a severe positive symptom significantly increased the risk of aggressive behavior. During the second 6 month period, after controlling for antisocial personality disorder or PCL score and self‐reported alcohol/drug use, the presence of a severe positive symptom, a TCO symptom, and an increase in TCO symptoms significantly increased the risk of aggressive behavior. Neither depot medications nor obligatory community treatment reduced the risk of aggressive behavior after controlling for the presence of a severe positive symptom and/or TCO symptoms. These findings suggest that, among men with schizophrenia being treated in the community, the presence of severe psychotic symptoms and the development of TCO symptoms are antecedents of aggressive behavior. Copyright © 2003 John Wiley & Sons, Ltd.
Waking Rip van Winkle: why developments in the last 20 years should teach the mental health system not to use housing as a tool of coercion
Authors: Allen Michael 
Published: July 2003

AbstractMany housing programs for people with mental illnesses rely on models that require the person to adhere to treatment as a condition of continuing access to housing. These models that ‘bundle’ housing and treatment are relics of a past in which persons with mental illnesses were afforded little real choice in treatment, housing and other social supports. Conditioning access to housing in this manner is coercive and at odds with current thinking regarding treatment, as well as legal principles that shape the environment in which treatment is provided. This article summarizes the reasons why housing for people with mental illnesses should be provided free of the use of coercion. Copyright © 2003 John Wiley & Sons, Ltd.
Evaluation of a mental health treatment court with assertive community treatment
Authors: Cosden Merith , Ellens Jeffrey K. , Schnell Jeffrey L. , Yamini‐Diouf Yasmeen , Wolfe Maren M. 
Published: July 2003

AbstractWithout active engagement, many adults with serious mental illnesses remain untreated in the community and commit criminal offenses, resulting in their placement in the jails rather than mental health facilities. A mental health treatment court (MHTC) with an assertive community treatment (ACT) model of case management was developed through the cooperative efforts of the criminal justice and mental health systems. Participants were 235 adults with a serious mental illness who were booked into the county jail, and who volunteered for the study. An experimental design was used, with participants randomly assigned to MHTC or treatment as usual (TAU), consisting of adversarial criminal processing and less intensive mental health treatment. Results were reported for 6 and 12 month follow‐up periods. Clients in both conditions improved in life satisfaction, distress, and independent living, while participants in the MHTC also showed reductions in substance abuse and new criminal activity. Outcomes are interpreted within the context of changes brought about in the community subsequent to implementation of the MHTC. Copyright © 2003 John Wiley & Sons, Ltd.
Perspectives on probation and mandated mental health treatment in specialized and traditional probation departments
Authors: Skeem Jennifer L. , Encandela John , Louden Jennifer Eno 
Published: July 2003

AbstractDespite the prevalence of mentally ill probationers, and probation officers' (POs') central role in their supervision, this is the first reported study to investigate how POs implement mandates to participate in psychiatric treatment. Five focus groups were conducted in major cities with 32 POs and 20 probationers representing a mix of traditional and “specialty” probation agencies. Three key findings resulted. First, there were considerable differences between POs in specialty and traditional agencies in the nature, range, and timing of strategies applied to monitor and enforce treatment compliance. Second, the quality of PO–probationer relationships colored POs' use of these strategies and was perceived as central to probationer outcomes. Relationships characterized by a respectful, personal, approach were perceived as more effective in achieving desired outcomes than those that were more authoritarian. Third, specialty agencies strongly emphasized offender rehabilitation whereas traditional agencies focused more exclusively on community safety. These agencies differed in how well probationers with mental illness “fit” their standard operating procedure. Implications for future research and directions for probation practice are discussed. Copyright © 2003 John Wiley & Sons, Ltd.
Effects of involuntary outpatient commitment on subjective quality of life in persons with severe mental illness
Authors: Swanson Jeffrey W. , Swartz Marvin S. , Elbogen Eric B. , Wagner H. Ryan , Burns Barbara J. 
Published: July 2003

AbstractRecent evidence suggests that involuntary outpatient commitment (OPC), when appropriately applied, can improve adherence with psychiatric treatment, decrease hospital recidivism and arrests, and lower the risk of violent behavior in persons with severe mental illness. Presumably these are benefits that improve quality of life (QOL); however, insofar as OPC involves legal coercion, the undesirable aspects of OPC could also exert a negative effect on quality of life, thus offsetting clinical benefits.Involuntarily hospitalized subjects, awaiting discharge under outpatient commitment, were randomly assigned to be released or continue under outpatient commitment in the community after hospital discharge, and were followed for one year. Quality of life was measured at baseline and 12 months follow‐up. Treatment characteristics and clinical outcomes were also measured.Subjects who underwent longer periods of outpatient commitment had significantly greater quality of life as measured at the end of the 1 year study. Multivariable analysis showed that the effect of OPC on QOL was mediated by greater treatment adherence and lower symptom scores. However, perceived coercion moderated the effect of OPC on QOL.Involuntary outpatient commitment, when sustained over time, indirectly exerts a positive effect on subjective quality of life for persons with SMI, at least in part by improving treatment adherence and lowering symptomatology. Copyright © 2003 John Wiley & Sons, Ltd.
The reported prevalence of mandated community treatment in two Florida samples
Authors: Christy Annette , Boothroyd Roger A. , Petrila John , Poythress Norman 
Published: July 2003

AbstractQuestions on multiple modes of mandated community treatment (e.g. outpatient commitment, advance directive, representative payee, and special housing) were included in two studies of persons with mental illness, using a mail survey of Medicaid enrollees receiving SSI and interviews conducted as part of an evaluation of a specialty mental health court. Results indicate that the majority of individuals reported no experience with any forms of mandated community treatment. However, respondents from the two samples who had been subject to community mandates reported comparatively similar experiences. Additional studies of the prevalence of mandated community treatment are necessary to garner expanded information regarding the use of such mandates. In addition, future studies must assure that the language employed to query individuals regarding such mandates is clearly understood by respondents, as certain terms (e.g. “outpatient commitment”) may mean different things to different respondents. Copyright © 2003 John Wiley & Sons, Ltd.
Gender‐ and age‐related differences in the morphology of the corpus callosum
Authors: Suganthy J. , Raghuram L. , Antonisamy B. , Vettivel S. , Madhavi C. , Koshi Rachel 
Published: August 2003

AbstractThe size and shape of the adult corpus callosum may vary with gender and age. There is, however, little data on the morphology of the corpus callosum in the Indian population. The purpose of this study was to measure the size of the corpus callosum in normal adult Indian males and females, and to identify gender‐ and age‐related differences. The size of the corpus callosum on midsagittal section was measured in 100 (50 males, 50 females) normal adult Indians using magnetic resonance imaging. The length of the corpus callosum, the width of the genu, trunk, and splenium, the area of the splenium, and the total area of the corpus callosum were measured. The length of the brain also was measured. Means were compared for significant difference by gender using the Student's unpaired t‐test and by age using ANOVA followed by Duncan's multiple range test. Gender was estimated by discriminant function analysis and age was estimated by regression analysis from significant parameters. The corpus callosum was longer in males and the discriminant score to differentiate gender was determined with an accuracy of 66%. The length of the corpus callosum increased with age and regression equations for predicting age was derived from the length of the corpus callosum. The width of the trunk and genu decreased with age in males but not in females. Clin. Anat. 16:396–403, 2003. © 2003 Wiley‐Liss, Inc.
Intramuscular innervation of the human soleus muscle: A 3D model
Authors: Loh Eldon Y. , Agur Anne M. , McKee Nancy Hunt 
Published: August 2003

AbstractThe purpose of this study was to document the neural distribution patterns within the human soleus muscle using 3D computer modelling. Through serial dissection, pinning, and digitization, nerve distribution and muscle volume of a human cadaveric soleus muscle were documented and a detailed 3D computer model of neural distribution within the muscle volume was generated. Branching patterns demonstrated divisions that parallel architectural partitions within the soleus; that is, into anterior, posterior, and marginal soleus. Additionally, branching patterns demonstrated further partitioning of the posterior soleus into five distinct regions and the anterior soleus into two regions. Communication between nerve branches of the five regions of posterior soleus and between the anterior and posterior soleus were recorded. Knowledge of these anatomical partitions and their interaction is important as it will aid in the development of functional muscle models and in the understanding of normal and pathological muscle function. Clin. Anat. 16:378–382, 2003. © 2003 Wiley‐Liss, Inc.