RESUMO
BACKGROUND: Hearing loss with enlarged vestibular aqueduct (EVA) can be inherited as an autosomal recessive trait caused by bi-allelic mutations of SLC26A4. However, many EVA patients have non-diagnostic SLC26A4 genotypes with only one or no detectable mutant alleles. METHODS AND RESULTS: In this study, the authors were unable to detect occult SLC26A4 mutations in EVA patients with non-diagnostic genotypes by custom comparative genomic hybridisation (CGH) microarray analysis or by sequence analysis of conserved non-coding regions. The authors sought to compare the segregation of EVA among 71 families with two (M2), one (M1) or no (M0) detectable mutant alleles of SLC26A4. The segregation ratios of EVA in the M1 and M2 groups were similar, but the segregation ratio for M1 was significantly higher than in the M0 group. Haplotype analyses of SLC26A4-linked STR markers in M0 and M1 families revealed discordant segregation of EVA with these markers in eight of 24 M0 families. CONCLUSION: The results support the hypothesis of a second, undetected SLC26A4 mutation that accounts for EVA in the M1 patients, in contrast to non-genetic factors, complex inheritance, or aetiologic heterogeneity in the M0 group of patients. These results will be helpful for counselling EVA families with non-diagnostic SLC26A4 genotypes.
Assuntos
Perda Auditiva/genética , Proteínas de Membrana Transportadoras/genética , Aqueduto Vestibular/patologia , Estudos de Coortes , Hibridização Genômica Comparativa , DNA/química , DNA/genética , Família , Feminino , Variação Genética , Haplótipos , Humanos , Masculino , Linhagem , Análise de Sequência de DNA , Transportadores de SulfatoRESUMO
The complete genome sequence of the radiation-resistant bacterium Deinococcus radiodurans R1 is composed of two chromosomes (2,648,638 and 412,348 base pairs), a megaplasmid (177,466 base pairs), and a small plasmid (45,704 base pairs), yielding a total genome of 3,284, 156 base pairs. Multiple components distributed on the chromosomes and megaplasmid that contribute to the ability of D. radiodurans to survive under conditions of starvation, oxidative stress, and high amounts of DNA damage were identified. Deinococcus radiodurans represents an organism in which all systems for DNA repair, DNA damage export, desiccation and starvation recovery, and genetic redundancy are present in one cell.
Assuntos
Genoma Bacteriano , Cocos Gram-Positivos/genética , Mapeamento Físico do Cromossomo , Análise de Sequência de DNA , Proteínas de Bactérias/biossíntese , Proteínas de Bactérias/química , Proteínas de Bactérias/genética , Catalase/genética , Cromossomos Bacterianos/genética , Dano ao DNA , Reparo do DNA/genética , DNA Bacteriano/genética , Metabolismo Energético , Genes Bacterianos , Cocos Gram-Positivos/química , Cocos Gram-Positivos/classificação , Cocos Gram-Positivos/efeitos da radiação , Dados de Sequência Molecular , Fases de Leitura Aberta , Estresse Oxidativo , Plasmídeos , Tolerância a Radiação , Sequências Repetitivas de Ácido Nucleico , Superóxido Dismutase/genética , Thermus/química , Thermus/genética , Raios UltravioletaRESUMO
Fabry disease, OMIM 301500, is a progressive multisystem storage disorder due to the deficiency of alpha-galactosidase A (GALA). Neurological and vascular manifestations of this disorder with regard to hearing loss have not been analysed quantitatively in large cohorts. We conducted a retrospective cross sectional analysis of hearing loss in 109 male and female patients with Fabry disease who were referred to and seen at the Clinical Center of the National Institutes of Health, Bethesda, MD, USA on natural history and enzyme replacement study protocols. There were 85 males aged 6-58 years (mean 31 years, SD 13) and 24 females aged 22-72 years (mean 42 years, SD 12). All patients underwent a comprehensive audiological evaluation. In addition, cerebral white matter lesions, peripheral neuropathy, and kidney function were quantitatively assessed. HL(95), defined as a hearing threshold above the 95th percentile for age and gender matched normal controls, was present in 56% [95% CI (42.2-67.2)] of the males. Prevalence of HL(95) was lower in the group of patients with residual GALA enzyme activity compared with those without detectable activity (33% versus 63%) HL(95) was present in the low-, mid- and high-frequency ranges for all ages. Male patients with HL(95) had a higher microvascular cerebral white matter lesion load [1.4, interquartile range (IQR) 0-30.1 +/- versus 0, IQR 0-0], more pronounced cold perception deficit [19.4 +/- 5.5 versus 13.5 +/- 5.5 of just noticeable difference (JND) units] and lower kidney function [creatinine: 1.6 +/- 1.2 versus 0.77 +/- 0.2 mg/dl; blood urea nitrogen (BUN): 20.1 +/- 14.1 versus 10.3 +/- 3.28 mg/dl] than those without HL(95) (P < 0.001). Of the females, 38% had HL(95). There was no significant association with cold perception deficit, creatinine or BUN in the females. Word recognition and acoustic reflexes analyses suggested a predominant cochlear involvement. We conclude that hearing loss involving all frequency regions significantly contributes to morbidity in patients with Fabry disease. Our quantitative analysis suggests a correlation of neuropathic and vascular damage with hearing loss in the males. Residual GALA activity appears to have a protective effect against hearing loss.
Assuntos
Doença de Fabry/fisiopatologia , Perda Auditiva/fisiopatologia , Adolescente , Adulto , Idoso , Criança , Estudos Transversais , Orelha Média/fisiopatologia , Doença de Fabry/complicações , Feminino , Perda Auditiva/complicações , Humanos , Idioma , Masculino , Microcirculação , Pessoa de Meia-Idade , Doenças do Sistema Nervoso Periférico/complicações , Doenças do Sistema Nervoso Periférico/fisiopatologia , Testes Psicológicos , Estudos Retrospectivos , Limiar Sensorial , Índice de Gravidade de Doença , Fatores Sexuais , Telencéfalo/irrigação sanguínea , Zumbido/complicações , Zumbido/fisiopatologia , alfa-Galactosidase/metabolismoRESUMO
The literature regarding executive functioning in schizophrenia was examined to determine effect size differences between schizophrenic, normal control, and psychiatric groups. Effect sizes (n = 176) from 71 studies were cumulated across measures including the Wisconsin Card Sorting Test (WCST), Halstead Category Test (HCT), verbal/design fluency, Trail Making B (TMB), and the Stroop Color-Word Test. Schizophrenic groups were impaired relative to controls (delta = -1.45). Schizophrenic groups also performed 0.40 standard deviations lower than psychiatric groups. Within the schizophrenic versus normal control comparisons, the effect size based on complex measures, such as the WCST/HCT (delta = -1.42), was similar to that based on less complex measures, such as TMB and the Stroop (delta = -1.58). Chlorpromazine equivalents and illness duration were not significantly correlated with effect sizes (p > 0.05). Effect sizes and number of hospitalizations (p < 0.05) were related. Effect sizes and Brief Psychiatric Rating Scale (BPRS) were not significantly correlated. Negative and positive symptoms were significantly correlated (p < 0.05). The results as they apply to research and clinical practice are discussed.
Assuntos
Transtornos Cognitivos/diagnóstico , Testes Neuropsicológicos/estatística & dados numéricos , Esquizofrenia/diagnóstico , Psicologia do Esquizofrênico , Adulto , Transtornos Cognitivos/psicologia , Feminino , Humanos , Masculino , Psicometria , Valores de Referência , Reprodutibilidade dos TestesRESUMO
This review examines the literature on neuropsychological differences between paranoid and nonparanoid schizophrenia subjects. Thirty-two studies related to intellectual functioning, attention, memory, language, visual-spatial, and motor functions are discussed. Subjects with paranoid schizophrenia did not demonstrate higher intellectual functioning than those with nonparanoid schizophrenia, and both groups performed similarly on tests of verbal ability and visual-spatial functions. Several studies suggest that the paranoid subtype is associated with higher performance on tests of executive functions, attention, memory, and motor skills. However, the findings are inconsistent. Methodological issues in the literature are examined, including varying degrees of participants' chronicity and severity of illness among studies, criteria for diagnostic group membership, medication effects, reliability and validity of the neuropsychological measures, and statistical power.
Assuntos
Transtornos Neurocognitivos/diagnóstico , Testes Neuropsicológicos , Esquizofrenia Paranoide/diagnóstico , Esquizofrenia/diagnóstico , Psicologia do Esquizofrênico , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/psicologia , Diagnóstico Diferencial , Humanos , Inteligência , Transtornos Neurocognitivos/psicologia , Esquizofrenia Paranoide/psicologiaRESUMO
A meta-analysis of Minnesota Multiphasic Personality Inventory (MMPI) data from 403 control and psychiatric samples was used to (a) examine demographics associated with previously published MMPI studies, (b) test Goldberg's (1972) indexes for predicting normal versus deviant and neurotic versus psychotic group membership, (c) compare multiple regression, discriminant function, and logistic regression analyses commonly used to study the relation between the MMPI and diagnostic group membership, and (d) examine the signal within the MMPI as it relates to current psychiatric diagnosis. Group data were found to be efficient indicators of the relation between the MMPI and diagnosis, although efficiency is compromised by within-sample heterogeneity. The 3 statistical methods examined obtained equivalent results. Regression models related to group prediction are presented.
Assuntos
MMPI/estatística & dados numéricos , Transtornos Mentais/diagnóstico , Transtornos Mentais/psicologia , Adulto , Transtornos de Ansiedade/diagnóstico , Transtornos de Ansiedade/psicologia , Transtorno Depressivo/diagnóstico , Transtorno Depressivo/psicologia , Feminino , Humanos , Masculino , Transtornos do Humor/diagnóstico , Transtornos do Humor/psicologia , Psicometria , Esquizofrenia/diagnóstico , Psicologia do EsquizofrênicoRESUMO
The impact of ethnicity on word fluency measures, i.e., the FAS (Benton & Hamsher, 1976) and Animal Naming (AN) (Spreen & Strauss, 1991) tests, was explored. The groups included: White (n = 200), Black (n = 200), and Hispanic (n = 200) veterans. Multivariate analysis of variance (MANOVA) revealed significant main effects for FAS and AN total scores both before and after covarying for income, education, and Wide Range Achievement Test-Revised Reading scores (p <.05). The largest unadjusted group mean difference approximated a medium effect size. No differences were found between FAS and AN standardized scores within each group. The findings are discussed as they relate to clinical practice and research.
RESUMO
Characteristics of child sexual abuse victims were determined through a comparison of 87 victims of lone female perpetrators to 93 victims of lone male perpetrators according to age, gender, and relationship of perpetrator to the victim. Lone female perpetrators abused children 3.3 years younger (M = 6.0 years) than lone male perpetrators (M = 9.3 years). Both lone female and lone male perpetrators abused more girls (62%, 76%, respectively) than boys. Female perpetrators were more likely to be caretakers than male perpetrators, whereas male perpetrators were more likely to be strangers than female perpetrators. Lastly, lone female perpetrators, lone male perpetrators, and male/female coperpetrators did not differ regarding severity of abuse. Thus, contrary to popular assumption, abuse by female perpetrators was not less severe than abuse by male perpetrators.
Assuntos
Abuso Sexual na Infância/estatística & dados numéricos , Delitos Sexuais/estatística & dados numéricos , Adolescente , Adulto , Cuidadores/psicologia , Cuidadores/estatística & dados numéricos , Criança , Abuso Sexual na Infância/diagnóstico , Abuso Sexual na Infância/psicologia , Filho de Pais com Deficiência/psicologia , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Desenvolvimento Psicossexual , São Francisco/epidemiologia , Fatores Sexuais , Delitos Sexuais/psicologia , Meio Social , População Urbana/estatística & dados numéricosRESUMO
Seven community hospitals have worked cooperatively for 18 months to develop an initial hospital pharmacy quality assurance program. Auditing criteria were developed for nine service areas corresponding to the model program developed by the American Society of Hospital Pharmacists. Current plans are to implement and modify this program as required at each participating hospital. Follow-up programs will also be essential to a functional, ongoing program, and these will be developed in the future.
Assuntos
Serviço de Farmácia Hospitalar/normas , Garantia da Qualidade dos Cuidados de Saúde , Padrões de Referência , Relações Interinstitucionais , MichiganAssuntos
Perda Auditiva Neurossensorial/diagnóstico , Perda Auditiva Neurossensorial/genética , Proteínas de Membrana Transportadoras/genética , Mutação , Aqueduto Vestibular/anormalidades , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Fenótipo , Transportadores de Sulfato , SíndromeRESUMO
Fifty-one percent (N = 80) of directors of doctoral PhD and PsyD programs in clinical psychology, accredited by the American Psychological Association (APA), responded to a survey on assessment training. The study was a replication of an earlier survey by Piotrowski and Keller (1984b) on instruction, practices, and attitudes on testing. Our findings indicated that training emphasis in assessment coursework has changed very little over the past decade. Intelligence testing was emphasized in most programs, followed by objective and projective personality assessment. However, training in behavioral assessment techniques was required in only half of the responding programs. There were no significant differences between PhD and PsyD programs concerning required coursework in assessment. Factors that influence the perennial importance of testing in the clinical core curriculum are discussed.
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This review examines the literature on assessing borderline personality disorder (BPD) using the MMPI and the Rorschach test. Despite the extensive use of these instruments in the assessment of BPD, the degree to which they are successful in identifying the disorder remains unclear. Methodological difficulties in this literature are discussed, including diagnostic and sample heterogeneity, base rate issues, systematic differences in selection criteria among studies, and, for the Rorschach, differing outcome measures. Both MMPI and Rorschach findings suggest a general trend for borderline groups to produce relatively unique findings. Their usefulness in yielding accurate individual diagnoses of BPD, however, has not yet been established. Furthermore, no supportive evidence was found for the commonly held hypothesis that BPD subjects show more impairment on unstructured measures than on objective measures.
Assuntos
Transtorno da Personalidade Borderline/diagnóstico , MMPI , Teste de Rorschach , Transtorno da Personalidade Borderline/classificação , Transtorno da Personalidade Borderline/psicologia , Humanos , Psicometria , Projetos de Pesquisa/normasRESUMO
Although recent clinical literature has posited that both shame and depression are important aspects in the treatment of adult children of alcoholics (ACAs), proneness to shame and depression in this group remains underexamined. This study tests the hypotheses that ACAs are more prone to shame and depression than non-ACAs. The sample consisted of 60 women--30 ACAs and 30 non-ACAs--who were 22 to 55 years old during the study period and had begun treatment within the past 6 months. The dependent measures were the Depression Proneness Rating Scale and the Adapted Shame/Guilt Scale. Female ACAs were found to be more depression prone than non-ACAs (p < .05), and the difference was not explained by any of the other variables studied. Contrary to expectations, they were not found to be more shame prone. The results are discussed as they relate to alternative hypotheses, clinical implications, and future research.
Assuntos
Alcoolismo/psicologia , Filho de Pais com Deficiência/psicologia , Transtorno Depressivo/psicologia , Desenvolvimento da Personalidade , Vergonha , Adulto , Alcoolismo/genética , Alcoolismo/reabilitação , Transtorno Depressivo/genética , Transtorno Depressivo/terapia , Feminino , Humanos , Pessoa de Meia-Idade , Determinação da Personalidade , Psicoterapia , Fatores de RiscoRESUMO
Previous research indicates that blood pressure may impact a variety of cognitive functions, including short-term memory, abstract reasoning, visual-spatial abilities, and attention (Boller, Vrtunski, Mack, & Kim, 1977; Elias, Robbins, Schultz, & Pierce, 1990; Franceschi, Tancredi, Smirne, Mercinelli, & Canal, 1982; Mazzucchiet al., 1986). However, studies which have assessed the cognitive functioning of hypertensive adults have offered conflicting results, particularly when hypertension levels were in the mild range (e.g., Bolleret al., 1977; Eliaset al., 1990; Elias, Wolf, D'Agostino, Cobb, & White, 1993; Farmeret al., 1987, 1990; Franceschiet al., 1982; Pérez-Stable, Coates, Halliday, Gardiner, & Hauck, 1992; Schmidtet al., 1991; Waldstein, Ryan, Manuck, Parkinson, & Bromet, 1991). A number of factors may contribute to the inconsistent findings in this area. Researchers have employed a wide range of neuropsychological instruments to assess varying domains of cognitive function. Sample sizes in some studies have been too small to ensure sufficient power. Finally, studies have employed varying methodological control over potential confounding factors such as concurrent medical conditions, alcohol abuse, psychiatric disorders, or antihypertensive medication. This study compared male veterans with blood pressures in the mildly hypertensive range (n=166) to normotensive veterans (n=176) on neuropsychological measures of verbal fluency, visual-spatial ability, verbal and visual memory, dexterity, attention, and executive functions. Results revealed that, after controlling for differences in education and income, there was no relationship between mild hypertension and combined measures of cognitive performance. The present findings suggest that mild hypertension alone has little effect on cognitive function in adults.
RESUMO
Data from the Vietnam Experience Study were used to examine psychosocial correlates of eczema. Based upon the results of dermatologic examinations, three groups of male veterans were identified: (a) subjects with eczema (n = 80), (b) subjects with tinea (n = 282), and (c) subjects with no medical diagnosis (n = 176). These three groups were compared on measures of anxiety, depression, hostility, and social support. The Diagnostic Interview Schedule (Version III-A) was used to determine diagnoses of anxiety and depression and level of social support. MMPI Scales 2 and 7, the Wiggins content scale of Depression, and the Cook-Medley Hostility Scale were used to assess anxiety, depression, and hostility. Eczema subjects did not differ from tinea or no-disease control groups on dependent measures. These results are contrasted with previous studies of treatment-seeking patients, which showed greater prevalence of anxiety and depression among individuals with eczema. Directions for future research are suggested.
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This paper critically reviews 48 studies which examine the use of the Rorschach in adolescent populations. Several methodological concerns present in this literature are addressed, including (a) small sample sizes, (b) wide age ranges within the samples, (c) limited generalizability due to narrowly defined constructs and examination of highly specific groups, (d) frequent reliance on recorded diagnosis to determine group membership, and (e) limited comparability across studies due to the use of highly variable scoring and interpretation systems. In spite of these difficulties, there is some evidence that the Rorschach does provide useful and valid measures of reality testing, cognitive complexity, and disordered/psychotic thinking; general psychological distress; disturbance in object relations; and depression in specific adolescent groups. Clinical implications and directions for future research are discussed.
RESUMO
Although impairment in cognitive functioning is theoretically linked to the presence of post-traumatic stress disorder (PTSD), the actual impact of this disorder on neuropsychological performance remains largely unknown. While a modest amount of empirical attention has been directed toward examining the neuropsychological correlates of PTSD, several methodological problems, most notably small sample sizes and the resulting lack of power, have greatly restricted generalizability of findings. The present study examined the neuropsychological performance pattern of Vietnam veterans with PTSD (n = 241) as compared to those with generalized anxiety disorder (n = 241) and no history of psychiatric diagnosis (n = 241). A one-way MANOVA revealed no significant differences among the groups on any of the dependent measures of cognitive functioning, including the Wechsler Adult Intelligence Scale-Revised Block Design subtest, the California Verbal Learning Test, the Rey-Osterrieth Complex Figure Drawing Test, and the Paced Auditory Serial Addition Test. The results are reconciled as they relate to previous research examining the theoretical constructs of PTSD, clinical applications, and directions for future research.