Home About us Contact
|
Home About us Contact | ||
|
|
||
Expected Associations (expected + association)
Selected AbstractsLower motor neuron involvement in perisylvian polymicrogyriaDEVELOPMENTAL MEDICINE & CHILD NEUROLOGY, Issue 10 2006Maria Clark MB BChir MRCP Congenital bilateral perisylvian polymicrogyria syndrome (CBPS) has a cerebral cortical localization and its phenotype was thought to be purely central. This study of seven children with CBPS (five males, two females; mean age 5y [SD 3y 6mo]; range 1mo-11y 10mo) documents electrophysiological evidence of lower motor neuron involvement in association with congenital contractures (limb or jaw) in six of the seven children studied. This is not an expected association and does not conform to the traditional lesional classification system of the cerebral palsies. Possible pathogenic mechanisms are discussed but this association of upper and lower motor neuron involvement is likely to be a previously unsuspected part of a genetic or other pathogenic sequence. [source] MEG detection of delayed auditory evoked responses in autism spectrum disorders: towards an imaging biomarker for autismAUTISM RESEARCH, Issue 1 2010Timothy P.L. Roberts Abstract Motivated by auditory and speech deficits in autism spectrum disorders (ASD), the frequency dependence of superior temporal gyrus (STG) 50,msec (M50) and 100,msec (M100) neuromagnetic auditory evoked field responses in children with ASD and typically developing controls were evaluated. Whole-cortex magnetoencephalography (MEG) was obtained from 17 typically developing children and 25 children with ASD. Subjects were presented tones with frequencies of 200, 300, 500, and 1,000,Hz, and left and right STG M50 and M100 STG activity was examined. No M50 latency or amplitude Group differences were observed. In the right hemisphere, a Group×Frequency ANOVA on M100 latency produced a main effect for Group (P=0.01), with an average M100 latency delay of 11,msec in children with ASD. In addition, only in the control group was the expected association of earlier M100 latencies in older than younger children observed. Group latency differences remained significant when hierarchical regression analyses partialed out M100 variance associated with age, IQ, and language ability (all P -values <0.05). Examining the right-hemisphere 500,Hz condition (where the largest latency differences were observed), a sensitivity of 75%, a specificity of 81%, and a positive predictive value (PPV) of 86% was obtained at a threshold of 116,msec. The M100 latency delay indicates disruption of encoding simple sensory information. Given similar findings in language impaired and nonlanguage impaired ASD subjects, a right-hemisphere M100 latency delay appears to be an electrophysiological endophenotype for autism. [source] Using the SWAP-200 in a personality-disordered forensic population: is it valid, reliable and useful?CRIMINAL BEHAVIOUR AND MENTAL HEALTH, Issue 1 2005Luisa E. Marin-Avellan Background Treatment and risk management of forensic patients relies heavily on diagnosing psychopathology, yet the reliability of clinical diagnoses of personality disorder has been found to be only fair to low. Structured instruments for the global assessment of personality disorder are infrequently used in clinical assessments possibly due to their limited validity and clinical utility. Aims/methods The Shedler-Westen Assessment Procedure-200 (SWAP-200) was developed in an effort to address these limitations. Although good reliability and validity in relation to clinicians' diagnosis of personality disorder has been reported, to date the validity of this instrument has not been assessed in relation to other standardized instruments or in a personality-disordered, forensic population. This study aims to establish the reliability and validity of the SWAP-200 against other diagnostic instruments and measures of interpersonal functioning in a personality disordered forensic population. Results This paper reports the results of 30 subjects from a high secure hospital in the UK who were assessed with the SWAP-200, the Structured Clinical Interview for DSM-IV Personality Disorders (SCID-II), the Adult Attachment Interview (AAI) and the Chart of Interpersonal Reactions in Closed Living Environments (CIRCLE). Preliminary results suggest that the SWAP-200 is a reliable instrument for the diagnosis of personality disorder in forensic patients. Conclusions Although the small sample size allows only preliminary conclusions about the validity of this instrument, early results show a reduction of the diagnosis of comorbidity compared with the SCID-II, together with an increased number of expected associations between independent measures of interpersonal functioning and categories of personality disorder. Copyright © 2005 Whurr Publishers Ltd. [source] A case-control study of the association of the polymorphisms and haplotypes of DNA ligase I with lung and upper-aerodigestive-tract cancersINTERNATIONAL JOURNAL OF CANCER, Issue 7 2008Yuan-Chin Amy Lee Abstract Tobacco smoking is a major risk factor for lung and upper-aerodigestive-tract (UADT) cancers. One possible mechanism for the associations may be through DNA damage pathways. DNA Ligase I (LIG1) is a DNA repair gene involved in both the nucleotide excision repair (NER) and the base excision repair (BER) pathways. We examined the association of 4 LIG1 polymorphisms with lung and UADT cancers, and their potential interactions with smoking in a population-based case-control study in Los Angeles County. We performed genotyping using the SNPlex method from Applied Biosystems. Logistic regression analyses of 551 lung cancer cases, 489 UADT cancer cases and 948 controls showed the expected associations of tobacco smoking with lung and UADT cancers and new associations between the LIG1 haplotypes and these cancers. For lung cancer, when compared to the most common haplotype (rs20581-rs20580-rs20579-rs439132 = T-C-C-A), the adjusted odds ratio (OR) is 1.2 (95% confidence limits (CL) = 0.95, 1.5) for the CACA haplotype, 1.4 (1.0, 1.9) for the CATA haplotype and 1.8 (1.1, 2.8) for the CCCG haplotype, after controlling for age, gender, race/ethnicity, education and tobacco smoking. We observed weaker associations between the LIG1 haplotypes and UADT cancers. Our findings suggest the LIG1 haplotypes may affect the risk of lung and UADT cancers. © 2007 Wiley-Liss, Inc. [source] Relation between vascular risk factors and cognition at age 75ACTA NEUROLOGICA SCANDINAVICA, Issue 2 2006P. Fischer Objective ,, Recent trends in dementia research emphasize that not only cerebrovascular events but also vascular risk factors induce, favour or cause cognitive impairment and Alzheimer's disease. Material and methods ,, We evaluated vascular risk factors (blood pressure, LDL cholesterol, HDL cholesterol, triglycerides, HbA1c, homocysteine, lipoprotein(a), fibrinogen, C-reactive protein and smoking habits) in a community-based cohort of 75-year-old individuals of two districts in Vienna (247 men, 359 women) and correlated these risk factors with overall cognition. Results ,, Pathological vascular risk factors were found frequently in the age cohort. However, the expected associations between the Mini-Mental State Examination and any cardiovascular risk factors were missing. Only individuals with a positive history of smoking showed lower cognitive capacities. Conclusions ,, We assume that cognitive dysfunction in old age is connected to factors other than the known classical and novel risk factors for the development of cardiovascular disease. [source] A multi-centre study of candidate genes for wheeze and allergy: the International Study of Asthma and Allergies in Childhood Phase 2CLINICAL & EXPERIMENTAL ALLERGY, Issue 12 2009J. Genuneit Summary Background Common polymorphisms have been identified in genes suspected to play a role in asthma. We investigated their associations with wheeze and allergy in a case,control sample from Phase 2 of the International Study of Asthma and Allergies in Childhood. Methods We compared 1105 wheezing and 3137 non-wheezing children aged 8,12 years from 17 study centres in 13 countries. Genotyping of 55 candidate single nucleotide polymorphisms (SNPs) in 14 genes was performed using the Sequenom System. Logistic regression models were fitted separately for each centre and each SNP. A combined per allele odds ratio and measures of heterogeneity between centres were derived by random effects meta-analysis. Results Significant associations with wheeze in the past year were detected in only four genes (IL4R, TLR4, MS4A2, TLR9, P<0.05), with per allele odds ratios generally <1.3. Variants in IL4R and TLR4 were also related to allergen-specific IgE, while polymorphisms in FCER1B (MS4A2) and TLR9 were not. There were also highly significant associations (P<0.001) between SPINK5 variants and visible eczema (but not IgE levels) and between IL13 variants and total IgE. Heterogeneity of effects across centres was rare, despite differences in allele frequencies. Conclusions Despite the biological plausibility of IgE-related mechanisms in asthma, very few of the tested candidates showed evidence of association with both wheeze and increased IgE levels. We were unable to confirm associations of the positional candidates DPP10 and PHF11 with wheeze, although our study had ample power to detect the expected associations of IL13 variants with IgE and SPINK5 variants with eczema. [source] | ||||||||||