Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0036341 (schizophrenia)
60,220 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

110 patients (52 men, 58 women) in a state of acute intoxication were examined in emergency department of psychoneurologic hospital. Neuroleptics of different groups were used to commit a suicide (91.3% of the cases), to obtain a toxicomanic effect (6.3%) and accidentally (1.8%). The patients suffered from borderline mental disorders (39.2%), schizophrenia (40.9%), manic-depressive psychosis in depressive phase (10.9%), chronic alcoholism (4.5%) and organic damages of CNS (4.5%). The patients with borderline states used various drugs and had more light disorders of consciousness (deafness). Meanwhile, the patients with endogenic mental disorders used strong neuroleptics, as a rule, that resulted in coma. In residual period there were different syndromes from asthenic to psychoorganic ones. They were more severe after poisoning with aminazinum, haloperidol, leponex.
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PMID:[Mental disorders in acute neuroleptic poisoning]. 1102 38

Auditory sensory processing in the human cerebral cortex is disturbed in several neurological and neuropsychiatric disorders, ranging from devastating perceptual deficits in neuropsychological syndromes such as cortical deafness and auditory agnosia to the problem of involuntary hallucinatory perception in schizophrenia. With modern non-invasive functional imaging techniques (e.g., PET, fMRI, and MEG), the normal auditory cortical functional anatomy can now be studied in humans in vivo, as well as its disruption in pathological conditions. This article will summarize current knowledge on human central auditory perception in health and disease, with an emphasis on recent functional neuroimaging studies, in the context of clinical and basic neuroscientific knowledge. New strategies include a focus on the role of other, non-temporal brain areas for auditory processing, particularly in the frontal lobes, and the combined use of techniques offering both precise spatial and temporal resolution. One step towards this goal has been the recent development of a silent, event-related fMRI scanning technique.
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PMID:Functional neuroimaging of human central auditory processing in normal subjects and patients with neurological and neuropsychiatric disorders. 1132 Apr 47

The difference with which the pre-lingual and post-lingual profoundly deaf confront their deafness is evident: the reticence of many pre-lingual deaf persons when faced with technological advances and genetic investigations is not present among the post-lingual deaf. This article looks at this difference from the person as a whole, and aims to carry out a comparative study of the personalities of both groups and of the non-deaf. To this end, three samples were taken (one of pre-lingual deaf persons, one of post-lingual deaf persons and a third of non-deaf persons) and the Mini-Mult personality questionnaire was employed as a measuring instrument. Significant differences were found in 5 clinical scales: Hs (hypochondria), Hy (hysteria), Pa (paranoia), Pt (psychastenia), Sc (schizophrenia). The differences between the deaf and the non-deaf are statistically significant. The profile obtained for the pre-lingual deaf is high on the schizophrenia scale (Sc), and suggests a kind of person where the said scale might detect isolation derived from deafness. The profile of the post-lingual deaf, marked by the hypochondria scale, shows persons with severe hypersensibility and fears regarding their state of health. The significant influence of variables such as level of education and state of employment on the post-lingual deaf and, in particular, on his feeling of loneliness and his worries regarding his deafness, his state of mind and his possible paranoiac tendencies, makes them factors that must be taken into consideration when fundamentally evaluating the personality of a post-lingual deaf person. These personality traits influence the way a profoundly deaf person confronts his deafness.
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PMID:Personality study in profoundly deaf adults. 1138 61

Genetic isolates have been useful cohorts in which to search for genes underlying disorders of unknown pathology. One such cohort is thought to exist in the Central Valley of Costa Rica surrounding the city of San Jose. Previous investigators identified a rare dominant gene for hereditary deafness in this population, and a suggestive linkage of severe bipolar psychosis has been reported in another study. Ninety-nine families with at least one pair of siblings affected with schizophrenia or a schizophrenia-spectrum diagnosis had clinical evaluations and DNA collected for genotyping. The Marshfield Medical Research Foundation (NHLBI) Mammalian Genotyping Service performed all genotyping using 404 short-tandem repeat polymorphic markers (STRPs) spaced on average 10 cM apart. Data were analyzed using the nonparametric program, GeneHunterPlus. The population structure was investigated using the STRUCT program. No region was found with genome-wide significance for linkage. Using a phenotype of schizophrenia plus schizoaffective disorder, the highest maximum likelihood score (MLS) observed was 1.78 (P < 0.004) at 176.6 cM from pter on chromosome 5q, an area previously implicated by some other groups. In addition, five regions on chromosomes 1p, 2p, 2q, 14p, and 8p had MLSs above 1.0. All other regions produced scores below 1.0. Population genetic analysis reveals no evidence for population substructure, for admixture with other populations, such as Amerindians, or for inbreeding in the parental generation. The latter casts some doubt on this population being an isolate, although there was evidence of inbreeding among the offspring.
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PMID:Genome-wide scan for linkage to schizophrenia in a Spanish-origin cohort from Costa Rica. 1211 83

Recent research has highlighted the relationships between impairments in cognitive functioning and poorer functional outcomes among people with schizophrenia (PWS). The purpose of this study was to replicate and extend this work by testing the relationships between cognition and functional outcome among deaf adults with schizophrenia. Empirical findings from deafness-oriented research reveals enhanced abilities in certain aspects of visual-spatial processing compared to hearing people. Sixty-five PWS (34 deaf, 31 hearing) were assessed using measures of verbal and visual memory, attention, and visual processing. The first hypothesis tested whether cognition predicted functional outcome in a similar fashion for both deaf and hearing subjects (n=63). For all subjects, higher levels of cognitive ability were associated with higher levels of functional outcome, and the strongest predictors of outcome were verbal memory and visual-spatial memory (recall condition) (VSM recall). However, the deaf and hearing groups did show different patterns of relationships between cognition and functioning when all cognitive variables were examined. The second hypothesis was that deaf subjects would display superior performance in early visual processing, visual-spatial memory (copy condition) (VSM copy), and VSM recall. Deaf subjects displayed superior performance on each task; however, no significant differences emerged. Deaf subjects outperformed hearing subjects in an unexpected domain (word memory/recognition). This study extends prior work in the area of cognition and schizophrenia and indicates that deaf and hearing subjects may benefit from interventions that address different domains of cognition.
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PMID:Cognition and functional outcome among deaf and hearing people with schizophrenia. 1756 83

Homozygosity mapping within consanguineous families is a powerful method of localising genes for autosomal recessive disease. We investigated a family from Punjab, Pakistan, a region where consanguineous marriages are frequent. The parents have no detectable clinical disorders. However, five out of six children present with schizophrenia, epilepsy or hearing impairment either alone or in combination. This unusual phenotype in several offspring of first cousins is strongly suggestive of a rare, Mendelian recessive disorder. Two genome-wide scans initially using low-density microsatellites, and subsequently high-density SNP markers were used to map homozygous-by-descent regions in affected individuals. Candidate genes within these loci were subsequently screened for mutations. Homozygosity analysis and inbreeding coefficients were investigated to give an estimate of consanguinity. Two putative disease loci were mapped to 22q12.3-q13.3 and 2p24.3. The candidate locus on chromosome 2p24 overlaps with a deafness locus, DFNB47, linked to autosomal recessive hearing impairment, while positive findings reported for affective psychosis and schizophrenia cluster in a region of 4-5 cM on 22q13.1 within our second candidate locus. Sequence analysis of three candidate genes (KCNF1 (2p); ATF4, CACNG2 (22q)) did not reveal any exonic mutations. Inbreeding coefficients calculated for each family member support a very high degree of ancestral and recent inbreeding. The screening of other candidate genes located within these newly identified disease intervals on Chr2p24.3 and 22q12.3-q13.3 may lead to the discovery of causative variants, and consequent disrupted molecular pathways associated with this rare phenotype.
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PMID:Homozygosity mapping in a family presenting with schizophrenia, epilepsy and hearing impairment. 1832 54

We have identified a previously unannotated catechol-O-methyltranferase (COMT), here designated COMT2, through positional cloning of a chemically induced mutation responsible for a neurobehavioral phenotype. Mice homozygous for a missense mutation in Comt2 show vestibular impairment, profound sensorineuronal deafness, and progressive degeneration of the organ of Corti. Consistent with this phenotype, COMT2 is highly expressed in sensory hair cells of the inner ear. COMT2 enzymatic activity is significantly reduced by the missense mutation, suggesting that a defect in catecholamine catabolism underlies the auditory and vestibular phenotypes. Based on the studies in mice, we have screened DNA from human families and identified a nonsense mutation in the human ortholog of the murine Comt2 gene that causes nonsyndromic deafness. Defects in catecholamine modification by COMT have been previously implicated in the development of schizophrenia. Our studies identify a previously undescribed COMT gene and indicate an unexpected role for catecholamines in the function of auditory and vestibular sense organs.
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PMID:A catechol-O-methyltransferase that is essential for auditory function in mice and humans. 1879 26

We all know people with tone deafness: these are the people who get thrown out of the choir at school. Although tone deafness is recognised as an output disorder, recent studies have characterised it as one of music perception in the absence of deafness or any associated cognitive disorder. The disorder can therefore be characterised as a form of auditory agnosia. This article considers how the phenotype might be deconstructed to the level of a causal deficit in the perception of pitch pattern. Based on our evolving understanding of the normal brain bases for this process a cortical deficit beyond primary cortex would be predicted. In tone deafness, structural cortical variations have been demonstrated by recent studies that detect subtle changes in the cortical mantle and underlying white matter: these changes are within a right hemisphere network for pitch pattern analysis and working memory for pitch. Studies of multiply affected families are underway to see if the disruption of this network can be caused by single genes. This disorder therefore offers the opportunity to study how a complex phenotype can be characterised as a cortical perceptual disorder potentially explained by a single gene or molecule. Although tone deafness is not pernicious, the underlying abnormality may prove to be a disorder of cortical connectivity that provides a model for disorders that are more so, such as schizophrenia.
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PMID:Tone deafness: a model complex cortical phenotype. 1914 80

Cognition has become prominent in the study of schizophrenia because of its importance for understanding the etiology of the illness and its consequences for living independently. For people with schizophrenia who are also deaf, investigations of cognition and schizophrenia are infrequent. This study examines the role of linguistic ability in relation to cognition, social cognition, and functional outcome among deaf adults with schizophrenia or schizoaffective disorder. The primary finding is that linguistic ability is positively and significantly associated with functional outcome above and beyond the contribution of cognition and social cognition. A younger age of sign language acquisition is significantly associated with superior linguistic ability, but did not moderate the effect of linguistic ability on other domains. Opportunities for deaf mental health consumers to participate in sign language enrichment programs and communicate with other skilled signers may be useful additions to standard psychiatric rehabilitation programming. More research is needed to clarify the consequences of deafness with regards to schizophrenia especially as it relates to language, vision, and symptoms.
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PMID:Linguistic ability and mental health outcomes among deaf people with schizophrenia. 2082 24

Visual illusions allow for strong tests of perceptual functioning. Perceptual impairments can produce superior task performance on certain tasks (i.e., more veridical perception), thereby avoiding generalized deficit confounds while tapping mechanisms that are largely outside of conscious control. Using a task based on the Ebbinghaus illusion, a perceptual phenomenon where the perceived size of a central target object is affected by the size of surrounding inducers, we tested hypotheses related to visual integration in deaf (n = 31) and hearing (n = 34) patients with schizophrenia. In past studies, psychiatrically healthy samples displayed increased visual integration relative to schizophrenia samples and thus were less able to correctly judge target sizes. Deafness, and especially the use of sign language, leads to heightened sensitivity to peripheral visual cues and increased sensitivity to visual context. Therefore, relative to hearing subjects, deaf subjects were expected to display increased context sensitivity (ie, a more normal illusion effect as evidenced by a decreased ability to correctly judge central target sizes). Confirming the hypothesis, deaf signers were significantly more sensitive to the illusion than nonsigning hearing patients. Moreover, an earlier age of sign language acquisition, higher levels of linguistic ability, and shorter illness duration were significantly related to increased context sensitivity. As predicted, disorganization was associated with reduced context sensitivity for all subjects. The primary implications of these data are that perceptual organization impairment in schizophrenia is plastic and that it is related to a broader failure in coordinating cognitive activity.
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PMID:Visual context processing deficits in schizophrenia: effects of deafness and disorganization. 2170 May 90


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