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At least 19 recordsLinked to original sources

PubMed1978

The property of contingent negative variation (CNV) in psychiatric patients: schizophrenia and neurosis.

The CNV parameters (amplitude and morphology) and the relationship between CNV parameters and performances (motor response time) were studied on schizophrenics (15 subjects), neurotics (15 subjects) and normal controls (30 subjects divided into 2 groups) in order to clarify the property of CNV in psychiatric patients. Also, the relationship between CNV and personality traits was investigated in neurotics. Since it has been known that age, sex and psychoactive drugs influence the CNV genesis in normal subjects, the control group method was used for these factors in this study. The results obtained were as follows: 1) Mean amplitudes of CNV's for schizophrenics and neurotics in each session of control, nonresponse and recovery tended to be lower than those for normal controls. Significant differences were found between schizophrenics and normal controls. 2) Correlations between CNV amplitude and response time in schizophrenics tended to be positive, while normal controls showed significantly high negative correlations. These findings were discussed from the viewpoint of the arousal theory of CNV genesis. 3) For the neurotic patients, the personality variables appeared to influence CNV amplitude. 4) Type B-CNV was most frequently seen in all sessions for normal controls. Schizophrenics and neurotics tended to show the increment of type P-CNV in nonresponse sessions without a motor response. 5) "Field Dependency" type-CNV was not found in psychiatric patients. This result did not correspond with the data reported by other investigators. 6) Type III- and type IV-prolonged CNV's appeared almost especially in schizophrenics although type II-CNV was observed in all groups. The mechanism of genesis of the prolonged CNV's was discussed.

Adult↗

PubMed2025

Comprehensive chromosomal abnormality detection: integrating CNV-Seq with traditional karyotyping in prenatal diagnostics.

BACKGROUND: This study aimed to evaluate the efficacy of copy number variation sequencing (CNV-Seq) in detecting chromosomal abnormalities in prenatal diagnosis, comparing its performance with traditional karyotype analysis. METHODS: A retrospective analysis was conducted on 1001 prenatal samples collected between April 2021 and December 2023. Samples were analyzed using both CNV-Seq and karyotype analysis. The detection rates of chromosomal abnormalities were compared between the two methods across various prenatal diagnostic indications. Clinical follow-up was performed to assess pregnancy outcomes. RESULTS: CNV-Seq detected chromosomal abnormalities in 89 of 1,001 cases (8.9%), compared to 50 cases (5.0%) identified by traditional karyotyping. CNV-Seq not only detected all abnormalities identified by karyotyping, including common aneuploidies such as trisomy 21 and sex chromosome abnormalities, but also uncovered 53 additional pathogenic submicroscopic CNVs associated with 33 known syndromes. The detection rates of CNV-Seq were significantly higher in high-risk groups, such as those identified by non-invasive prenatal testing (HR-NIPT) and maternal serum screening (HR-MSS), demonstrating superior sensitivity and accuracy in prenatal diagnostics. CONCLUSION: CNV-Seq demonstrated superior sensitivity in detecting chromosomal abnormalities, particularly submicroscopic alterations, compared to traditional karyotyping. The study highlights the potential of CNV-Seq as a valuable tool in prenatal diagnostics, offering improved detection of genetic abnormalities and guiding clinical decision-making. However, a combined approach using both CNV-Seq and karyotype analysis is recommended for comprehensive prenatal genetic screening.

Humans↗

PubMed2025

CNV-Finder: Streamlining Copy Number Variation Discovery.

Copy Number Variations (CNVs) play pivotal roles in the etiology of complex diseases and are variable across diverse populations. Understanding the association between CNVs and disease susceptibility is significant in disease genetics research and often requires analysis of large sample sizes. One of the most cost-effective and scalable methods for detecting CNVs is based on normalized signal intensity values, such as Log R Ratio (LRR) and B Allele Frequency (BAF), from Illumina genotyping arrays. In this study, we present CNV-Finder, a novel pipeline integrating deep learning techniques on array data, specifically a Long Short-Term Memory (LSTM) network, to expedite the large-scale identification of CNVs within predefined genomic regions. This facilitates efficient prioritization of samples for time-consuming or costly subsequent analyses such as Multiplex Ligation-dependent Probe Amplification (MLPA), short-read, and long-read whole genome sequencing. We incorporate four genes to establish our methods-Parkin (PRKN), Leucine Rich Repeat And Ig Domain Containing 2 (LINGO2), Microtubule Associated Protein Tau (MAPT), and alpha-Synuclein (SNCA)-which may be relevant to neurological diseases such as Alzheimer's disease (AD), Parkinson's disease (PD), Progressive Supranuclear Palsy (PSP), or related disorders such as essential tremor (ET). By training our models on expert-annotated samples and validating them across diverse cohorts, including those from the Global Parkinson's Genetics Program (GP2) and additional dementia-specific databases, we demonstrate the efficacy of CNV-Finder in accurately detecting deletions and duplications. Our pipeline outputs app-compatible files for visualization within CNV-Finder's interactive web application. This interface enables researchers to review predictions and filter displayed samples by model prediction values, LRR range, and variant count in order to explore or confirm results. Our pipeline integrates this human feedback to enhance model performance and reduce false positive rates. Through a series of comprehensive analyses and validations using visual inspection, MLPA, short-read, and long-read sequencing data, we demonstrate the robustness and adaptability of CNV-Finder in identifying CNVs with regions of varied size, probe density, and noise. Our findings highlight the significance of contextual understanding and human expertise in enhancing the precision of CNV identification, particularly in complex genomic regions like 17q21.31. The CNV-Finder pipeline is a scalable, publicly available resource for the scientific community, available on GitHub (https://github.com/GP2code/CNV-Finder; DOI 10.5281/zenodo.14182563). CNV-Finder not only expedites accurate candidate identification but also significantly reduces the manual workload for researchers, enabling future targeted validation and downstream analyses in regions or phenotypes of interest.

Copy Number Variation (CNV)↗

PubMed1978

The effect of motor-response-deprivation on contingent negative variation (CNV): the morphology.

Eighty-four healthy subjects (47 males and 37 females) ranging in age between 9 and 76 years were employed in a study of the relations of the CNV morphology with the CNV amplitude, the reaction time and the MPI score. The results were as follows: 1. We classified a new type of Plateau (P) in the negative-going limb (NGL) types. 2. There was no sex difference in the NGL types, but the positive-going limb (PGL) types were influenced by age, and the type II tended to increase between the ages of 40--59 years old. 3. As a whole, the type B in the NGL and the type I in the PGL were most prominent regardless of age, session or paradigm. The type FD was very rare and appeared only in the session N. The types III and IV failed to be found in any healthy subjects. 4. Using the matched control study, the relations of the morphology with the CNV amplitude, the reaction time and the MPI score were analyzed. The conventional CNV amplitude in the sessions C and R increased in the sequences of the types B-A-P and the types I-II, and the CNV amplitudes in the session N increased in the sequences of the types A-B-P and II-I. The reaction time in the sessions C and R tended to prolong in the sequences of the types P-B-A and II-I. With the MPI, as the N-score increased with a decrease of the E-score, the NGL types changed from the type P to A through B in the conventional CNV and from the type A to B or P in the session N, while the PGL types changed from the type I to II in the conventional CNV and from the type II to I in the session N. 5. We suggest that there is a twofold arousal process, specific (task-relevant) and general, behind these types and that the dynamic balance of this process may influence psychological manifestations.

Adolescent↗

PubMed1975

The frontal CNV: its dissimilarity to CNVs recorded from other sites.

Two new techniques were used to study the distribution of the CNV recorded from the scalp of humans. One technique was for the suppression of eye movements and the elimination of them fron the average data. The other technique was for the recognition of differences in the form of CNVs recorded from different sites. The latter technique utilized an average vertex CNV as a template pattern against which CNVs from the vertex, left and right frontal, central and parietal sites were matched. The results showed that the frontal CNV was different in form from the vertex, central and parietal Cnvs and that the vertex, central and parietal CnvS were similar in form. An analysis of the amplitudes of CNVs showed that the frontal CNVs were significantly smaller than the CNVs from all other sites, that the vertex CNV was significantly larger than the parietal or central CNVs and that the central CNV was significantly larger than the parietal CNV. There were no differences in amplitude between hemispheres within Condition A responding with the right hand) or Condition B (responding with the left hand) or between Conditions A and B. The results are discussed with respect to their possible theoretical implications.

Adult↗

PubMedDate not supplied

[Comparative study of the CNV and the quantitative EEG during a simple motor task (author's transl)].

The purpose of this study was to evaluate CNV amplitude variability and its degree of covariance with the spontaneous EEG (quantified by FFT algorithm) and the reaction time. 14 healthy male subjects made from atypical for one hour, and they had to keep their eyes closed. Recordings were during this period. CNV experimental paradigm was performed (S1--S2 = 1500 msec). The major findings of this study were that: 1) the CNV amplitude progressively decreased during the first part of the test (habituation) and then tended to stabilize. While not correlated with the vigilance index of spontaneous EEG (alpha/theta + delta index) the CNV amplitude was significantly related to the alpha reactivity index (% alpha of spontaneous EEG--% alpha of the S1--S2 EEG), 2) the CNV slope (calculated by drawing two points situated at 600 msec and 1400 msec after S1) showed significant relationship to both these EEG indices and the reaction time. These data are discussed in terms of Cooper's distinction between "scopeutic" and "categoric" processes (1978) and in terms of the Tecce model of the CNV (1972).

Adult↗

PubMed1978

[Studies of the expectancy wave (CNV) in patients with interruption of the thalamo-prefrontal interconnnection pathways caused by psychosurgical prefrontal lobotomy operations].

Frontal and vertex CNVs were studied in 8 selected nonschizophrenic patients subjected to unilateral or bilateral extensive prefrontal lobotomy. The dorsomedial thalamo-frontal pathways had been severed and their regeneration must be considered impossible. Standard CNV task (S1-S2-R) was followed in order to elicit CNVs from the frontal areas anterior to the line of sections and at Cz. In 7 out of 8 patients it was quite easy to evoke CNV with almost normal features and equal latencies in each case from all the cortical areas explored. These results show that CNV formation is not grossly altered in the prefrontal areas which have been irreversibly deprived of normal bi-directional mediothalamic-frontocortical connnections. This suggests that the role of the dorsomedial thalamo-frontal pathways are not essential in the genesis of the frontal CNV in humans. These findings would suggest that the CNV is a diffuse electrical event essentially related to a unitary cerebral process mediated fundamentally by nonspecific ascending meso-diencephalic reticular systems. The differences in morphology and polarity of the CNVs detectable in various brain structures are presumably related to their intrinsic anatomo-functional characteristics and to the method commonly utilized in recording the CNV.

Adult↗

PubMed1979

A CNV rebound effect.

Fifty normal volunteers were tested in two conditions: (1) a constant-foreperiod reaction time situation consisting of a flash-tone-key press sequence (control trials); (2) a '50%-letters' condition, in which two types of trials occurred randomly--no letters trials, which were identical to control trials, and letters trials, which were similar to control trials but also involved the presentation of four auditory letters within the flash-tone interval as part of a short-term memory task. Compared to control trials, CNV amplitude showed a pattern of reduction in letters trials accompanied by slower reaction times to tone (CNV distraction effect). Compared to control trials, CNV amplitude showed an unexpected supranormal increase in no-letters trials. The CNV rebound effect observed in no-letters trials was interpreted as reflecting a switching of attention from the divided attention set intrinsic to letters trials (listening for letters and preparing for response to tone) to an undivided attention set in no-letters trials (simply preparing for response to tone). The CNV rebound effect, which is diminished in aging individuals and absent in psychosurgery patients, appears to represent a non-invasive technique of possible value in assessing pathophysiology of human brain functioning.

Adult↗

PubMed1978

Motivational slow negative potential shift (CNV) related to thalamotomy.

The alteration of cortical electrical activity induced by imperative stimulation following warning stimulation, contigent negative variation (CNV), and psychological changes following thalamotomy for relief of intractable pain (CM) and tremor (VL) are studied, since CNV has a close relationship with the degree of psychological activity. Ventrolateral thalamotomy does not have any effect on the amplitude of cortical CNV, but the ventromedioposterior part of the centre median has a generating action of CNV in itself and it has facilitatory effects upon cortical CNV. According to these results, the effective mechanism of centre median thalamotomy for relief of intractable pain is caused by suppression of attention and expectancy for exogenous stimuli following lesions of the centre median.

Contingent Negative Variation↗

PubMed1979

Observations on the M-wave and the CNV in the squirrel monkey.

A typical CNV paradigm, with food as reward, evokes in the squirrel monkey's post-arcuate and post-central cortices both M-waves in response to the cues and what appears to be a CNV in the interstimulus interval. Both wave forms appear to be generated locally in cortex and to be more closely related temporally to the cues than to the animal's behavioral response. The CNV, like the M-wave, appears to reflect the animal's level of interest in obtaining the reward. It is smaller when the animal misses the cues than when he responds correctly. It decreases as food pellets are consumed. It varies with the level of interest of the animal in a particular type of food pellet, as judged from the animal's behavior. At some recording sites in some animals it appears to reflect both interest in the reward and interest in manipulating the environment to obtain the reward. It can be maintained for at least 2 sec, but differs from the human CNV in that, with the paradigm used, it is not well resolved by the imperative cue. Averaging evoked activity with the animal's motor response as reference point reveals another negative wave form which just precedes the motor response.

Acoustic Stimulation↗

PubMedDate not supplied

[Emotional and attentive interferences and slow cerebral potentials (CNV-P 300) (author's transl)].

A study was conducted to establish possible correlations between electrophysiological indices and performance under neutral situations and those involving completing a double task of increasing complexity, by studying CNV and P 300 in young healthy men. The results demonstrated that: 1. After habituation, the CNV amplitudes were not related to performance. A significant correlation was noted only during the most complex tasks. 2. The CNV appears to depend mainly on endogenous factors, that is to say the aptitude and readiness of an individual to treat the information, rather than on the performance resulting from this treatment. 3. The amplitude of the P 300 is related to performance, as a function of detection rate and the complexity of the tasks. The functional duality of the CNV and the differences between it and the P 300 have been emphasized. The indices obtained from slow potentials appear to be of value for an evaluation of behaviour. Rather than analyzing the characteristics of the potentials in a supposedly "neutral" situation it would appear preferable to establish, from the indices, profiles of individual reactivity and adaptation to different experimental situations.

Action Potentials↗

PubMed1978

EEG evoked response, P300 and CNV during processing of sentence information: clinical application.

Evoked response, P300 and CNV were investigated in the condition in which the subject was required to make a differential response to the acoustically and visually presented sentence with or without meaning, and he was able to determine whether the sentence had a meaning or not by understanding the key information. In healthy persons, P300 amplitude to the beginning of information and to the key information were larger than those to the others. P300 latency to the key character was longer. CNV appeared at the beginning of information and continued. The difference between CNVs produced by meaningful and meaningless sentences was observed after the key information. In aphasia, the difference between CNV's was not observed. In auditory agnosia, the difference between CNVs was not observed to acoustic sentences, but appeared to visual sentences. These results suggest that evoked response, P300 and CNV can be useful for assessing recognition of sentences.

Agnosia↗

PubMed1979

Methadone effects on brain functioning and type A and B CNV shapes.

Twelve male outpatients participating in a methadone maintenance treatment program were evaluated for the effects of acute administration of methadone on brain functioning (contingent negative variation or CNV), attention performance (reaction time and continuous performance test), and psychophysiological activity (heart rate and eye blink rate). Individual differences in response to methadone were assessed by classifying patients into two groups on the basis of basal CNV shapes: Type A (quick rise time) and type B (slow rise time). Methadone produced a pattern of increased electrical brain activity (CNV) and enhanced attention performance in type B patients and elevated heart rate and lowered eye blink rate in type A subjects. Results are interpreted in terms of the distraction-arousal and the eye blink-hedonia hypotheses.

Adult↗

PubMed1975

On the independence of the CNV and the P300 components of the human averaged evoked potential.

We report an experiment designed to assess the interactions between the CNV and the P300 components of human event-related potential. Eight subjects were each presented with series of experimental trials on all of which either a 1200 c/sec or an 800 c/sec tone was presented. There were three independent variables: (a) The presence or absence of a warning flash 1000 msec prior to the tone. (b) The task assigned to the subject--that is subjects were either to make a discriminative response to the tone or, on half the series, to predict prior to the tiral which of the two tones would be presented. (c) The predictability of the tone frequency. On half the series high and low tones alternated from trial to trial. On the other series, tones were chosen randomly on each trial. The data show that the amplitude of the P300 component is not affected by the presence or absence of a warning stimulus. Furthermore, the distributions of P300 and the CNV over the scalp are quite different. These conclusions are supported by a principal component and a discriminant analysis of the data. We conclude that the CNV and the P300 reflect the activity of functionally distinct cortical mechanisms.

Analysis of Variance↗

PubMed1978

A CNV study in a group of patients with traumatic head injuries.

CNVs were studied in a group of 27 subjects with traumatic head injuries followed by protracted coma. Before CNV recording, all patients were subjected to Wechsler-Bellevue Intelligence Scale and to Benton's visual retention test. The findings were compared with those obtained from 80 normal subjects. A statistically significant decrease was observed in the CNV area in the group with traumatic lesions. No correlation could be found between CNV parameters and the results of the mental tests. In 7 of the subjects who presented the highest percentage of errors in Benton's test, a large post-imperative negative variation was observed.

Adolescent↗

PubMed1977

[The importance of the "contingent negative variation" (CNV) for audiometry (author's transl)].

Previous proofs of "central processes" in hearing were based on the determination of the late "auditory evoked potentials" (AEP's: 50--300 ms) in EEG. The appearance of AEP's in different sleep stages raises the question, if the AEP actually conscious hearing. Since the discovery of the "Contingent Negative Variation" (CNV), as a potential depending on conscious and cognitive factors, an appropriate "instrument" is available to solve this problem. Using the CNV-technique three proofs of central auditory perception are described and discussed: a) "The objective proof of the perception of pure-tones", useful for threshold determination, test in the case of simulation and central hearing disorders. b) "The objective proof of the perception of stimulus-changes", useful for exact determination of differential thresholds for frequencies or intensities. c) "The objective speech audiometry", proof of speech comprehension, useful in case of aphasia and simulation.

Auditory Perception↗

PubMed1978

The timing of CNV resolution in a memory retrieval task.

Twelve men performed the Sternberg memory retrieval task while the EEG and EOG were recorded. Subjects saw a target set of 1 to 4 digits followed by a warning tone that was followed after 1.5 sec by a probe digit. Subjects indicated by pressing one of two levers whether the probe digit was in or out of the target set. The timing of contingent negative variation (CNV) resolution was measured as the latency of 50% resolution in stimulus-synchronized waveforms (SSWs), response-synchronized waveforms (RSWs), and model waveforms (MWs). The MWs were constructed by adding each RSW to itself using time displacements derived from the reaction times of the single trials of which the RSW was an average. The results indicated that CNV resolution is related to the timing of the motor response. MWs had resolution latencies close to those of the SSWs. In SSWs the N1 and P3 to the warning tone also varied with target set size.

Adolescent↗

PubMed1979

The independence of the P300 and the CNV reviewed: a reply to Wastell.

The relationship of P300 to the CNV was investigated by Donchin, Tueting, Ritter, Kutas and Heffley (1975) who concluded that these two components of the event-related brain potential (ERP) are independent. Wastell (1979) questioned the validity of the data analysis procedures and of the experimental design used by Donchin et al. In this report we examine Wastell's criticisms and find them to be unfounded. In support of this conclusion we note the differences between principal component analysis and factor analysis. We clarify points about Donchin et al.'s experimental design, and we review evidence for the independence of the P300 and the CNV that has accumulated since 1975.

Contingent Negative Variation↗