Browse
Submit Data
Databases
API
Help

Dataset Information

9 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Pilot study on schizophrenia in Sardinia.

ABSTRACT: OBJECTIVE:Based on a small sample of cases with schizophrenia and control individuals from an isolated population, a genome-wide association study was undertaken to find variants conferring susceptibility to this disease. METHODS:Standard association tests were employed, followed by newer multilocus association methods (genotype patterns). RESULTS:Individually, no variant produced a significant result. However, the best two variants (rs1360382 on chromosome 9 and rs1303 on chromosome 14) showed significantly different genotype pattern distributions between patients and control individuals. The risk genotype pattern AA-TT is highly predictive of schizophrenia, with estimated sensitivity and specificity of 1 and 0.96, respectively. CONCLUSIONS:These findings support the hypothesis that schizophrenia is partly due to multiple genetic variants, each with a relatively small effect.

SUBMITTER: Ott J

PROVIDER: S-EPMC7077084 | biostudies-literature | 2010

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Pilot study on schizophrenia in Sardinia.

Ott Jurg J Macciardi Fabio F Shen Yuanyuan Y Carta Mauro G MG Murru Andrea A Triunfo Riccardo R Robledo Renato R Rinaldi Antoniettina A Contu Licinio L Siniscalco Marcello M

Human heredity 20100617 2

<h4>Objective</h4>Based on a small sample of cases with schizophrenia and control individuals from an isolated population, a genome-wide association study was undertaken to find variants conferring susceptibility to this disease.<h4>Methods</h4>Standard association tests were employed, followed by newer multilocus association methods (genotype patterns).<h4>Results</h4>Individually, no variant produced a significant result. However, the best two variants (rs1360382 on chromosome 9 and rs1303 on ...[more]

PMID: 20558996

Similar Datasets

SoCIAL - training cognition in schizophrenia: a pilot study.

Project description:The purpose of this pilot study was to assess the efficacy of a new social cognition (SC) remediation intervention, the Social Cognition Individualized Activities Lab (SoCIAL), for subjects with schizophrenia. The training includes a module for emotion recognition and one for theory of mind. A comparison with a validated cognitive remediation intervention, the Social Skills And Neurocognitive Individualized Training (SSANIT), was conducted to verify the efficacy of the SoCIAL in improving SC. Ten stabilized patients with schizophrenia accepted to participate. Five patients were randomized to SoCIAL and five to SSANIT. The SoCIAL intervention includes individual sessions of neurocognitive individualized training (NIT) and group sessions of SC training. SSANIT includes individual sessions of NIT and group sessions of social skills individualized training. The interventions were matched for the overall treatment duration (20 weeks) and for the frequency of the sessions (two times a week, one for SoCIAL or social skills individualized training and one for NIT, with a duration of 80 minutes for each session). Results showed a significant treatment effect (effect size: Cohen's d 0.32) on the primary outcome; in fact, only the SoCIAL intervention improved theory of mind. Patients receiving the SoCIAL intervention also showed an improvement of avolition. These preliminary findings support further development of the SoCIAL and suggest that cognitive remediation should include an SC module.

| S-EPMC5530058 | biostudies-other

Communicative-Pragmatic Treatment in Schizophrenia: A Pilot Study.

Project description:This paper aims to verify the efficacy of Cognitive Pragmatic Treatment (CPT), a new remediation training for the improvement of the communicative-pragmatic abilities, in patients with schizophrenia. The CPT program is made up of 20 group sessions, focused on a number of communication modalities, i.e., linguistic, extralinguistic and paralinguistic, theory of mind (ToM) and other cognitive functions able to play a role on the communicative performance, such as awareness and planning. A group of 17 patients with schizophrenia took part in the training program. They were evaluated before and after training, through the equivalent forms of the Assessment Battery for Communication (ABaCo), a tool for testing, both in comprehension and in production, a wide range of pragmatic phenomena such as direct and indirect speech acts, irony and deceit, and a series of neuropsychological and ToM tests. The results showed a significant improvement in patients' performance on both production and comprehension tasks following the program, and in all the communication modalities evaluated through the ABaCo, i.e., linguistic, extralinguistic, paralinguistic, and social appropriateness. This improvement persisted after 3 months from the end of the training program, as shown by the follow-up tests. These preliminary findings provide evidence of the efficacy of the CPT program in improving communicative-pragmatic abilities in schizophrenic individuals.

| S-EPMC4762993 | biostudies-literature

ASARI pilot study

Project description:Impact of ciprofloxacin pertubation on the intestinal resistome and microbiota in two healthy volunteers

| PRJEB10391 | ENA

Pilot scale study

Project description:Effect of operational parameters in a pilot scale reactor.

| PRJEB29981 | ENA

Pilot Study BBSRC

Project description:Controlling enteric pathogens of poultry

| PRJEB9171 | ENA

Magnetic Seizure Therapy in Treatment-Resistant Schizophrenia: A Pilot Study.

Project description:Objective:Electroconvulsive therapy is effective in treatment-resistant schizophrenia (TRS) but use is limited due to stigma and concerns around cognitive adverse effects. Magnetic seizure therapy (MST) is a promising new neuromodulation technique that uses transcranial magnetic stimulation to induce therapeutic seizures. Studies of MST in depression have shown clinical improvement with a favorable adverse effect profile. No studies have examined the clinical utility of MST in schizophrenia. Methods:We conducted an open-label pilot clinical trial of MST in eight TRS patients. Up to 24 MST treatments were delivered depending on treatment response. We assessed clinical outcome through the Brief Psychiatric Rating Scale (BPRS) and the Quality of Life Enjoyment and Satisfaction Questionnaire (Q-LES-Q). Cognitive testing included a neuropsychological test battery, the Autobiographical Memory Inventory (AMI), Montreal Cognitive Assessment (MoCA), and reorientation time. Results:Four patients completed the trial as per protocol. For all patients and for trial completers alone, there was a significant clinical and quality of life improvement. Three met pre-determined criteria for remission (total score ?25 on the BPRS) and one met criteria for response (i.e., ?25% BPRS improvement from baseline for two consecutive assessments). Pre and post neurocognitive data showed no significant cognitive adverse effects apart from a decrease in AMI scores. Conclusion:In this pilot study, MST demonstrated evidence for feasibility in patients with TRS, with promise for clinical efficacy and negligible cognitive side effects. Further study in larger clinical populations is needed. Clinical Trial Registration:www.ClinicalTrials.gov, Identifier NCT01596608.

| S-EPMC5775974 | biostudies-literature

Relapse prediction in schizophrenia through digital phenotyping: a pilot study.

Project description:Among individuals diagnosed, hospitalized, and treated for schizophrenia, up to 40% of those discharged may relapse within 1 year even with appropriate treatment. Passively collected smartphone behavioral data present a scalable and at present underutilized opportunity to monitor patients in order to identify possible warning signs of relapse. Seventeen patients with schizophrenia in active treatment at a state mental health clinic in Boston used the Beiwe app on their personal smartphone for up to 3 months. By testing for changes in mobility patterns and social behavior over time as measured through smartphone use, we were able to identify statistically significant anomalies in patient behavior in the days prior to relapse. We found that the rate of behavioral anomalies detected in the 2 weeks prior to relapse was 71% higher than the rate of anomalies during other time periods. Our findings show how passive smartphone data, data collected in the background during regular phone use without active input from the subjects, can provide an unprecedented and detailed view into patient behavior outside the clinic. Real-time detection of behavioral anomalies could signal the need for an intervention before an escalation of symptoms and relapse occur, therefore reducing patient suffering and reducing the cost of care.

| S-EPMC6006347 | biostudies-literature

Ventral medial prefrontal functional connectivity and emotion regulation in chronic schizophrenia: a pilot study.

Project description:People with schizophrenia exhibit impaired social cognitive functions, particularly emotion regulation. Abnormal activations of the ventral medial prefrontal cortex (vMPFC) during emotional tasks have been demonstrated in schizophrenia, suggesting its important role in emotion processing in patients. We used the resting-state functional connectivity approach, setting a functionally relevant region, the vMPFC, as a seed region to examine the intrinsic functional interactions and communication between the vMPFC and other brain regions in schizophrenic patients. We found hypo-connectivity between the vMPFC and the medial frontal cortex, right middle temporal lobe (MTL), right hippocampus, parahippocampal cortex (PHC) and amygdala. Further, there was a decreased strength of the negative connectivity (or anticorrelation) between the vMPFC and the bilateral dorsal lateral prefrontal cortex (DLPFC) and pre-supplementary motor areas. Among these connectivity alterations, reduced vMPFC-DLPFC connectivity was positively correlated with positive symptoms on the Positive and Negative Syndrome Scale, while vMPFC-right MTL/PHC/amygdala functional connectivity was positively correlated with the performance of emotional regulation in patients. These findings imply that communication and coordination throughout the brain networks are disrupted in schizophrenia. The emotional correlates of vMPFC connectivity suggest a role of the hypo-connectivity between these regions in the neuropathology of abnormal social cognition in chronic schizophrenia.

| S-EPMC5561861 | biostudies-other

Mouse embryo transcript profile pilot study

Project description:Total RNA was extracted from adult mutant and wild type mouse embryos. The 3 end of fragmented RNA was pulled down using polyT oligos attached to magnetic beads, reverse transcribed, made into Illumina libraries and sequenced using Illumina HiSeq paired-end sequencing. Protocol: Total RNA was extracted from mouse embryos using Trizol and DNase treated. Chemically fragmented RNA was enriched for the 3 ends by pulled down using an anchored polyT oligo attached to magnetic beads. An RNA oligo comprising part of the Illumina adapter 2 was ligated to the 5 end of the captured RNA and the RNA was eluted from the beads. Reverse transcription was primed with an anchored polyT oligo with part of Illumina adapter 1 at the 5 end followed by 4 random bases, then one of six indexing tags and 14 T bases. An Illumina library with full adapter sequence was produced by 15 cycles of PCR. This data is part of a pre-publication release. For information on the proper use of pre-publication data shared by the Wellcome Trust Sanger Institute (including details of any publication moratoria), please see http://www.sanger.ac.uk/datasharing/

2014-04-14 | E-ERAD-71 | biostudies-arrayexpress

ECDC - COMPARE pilot study

Project description:Study for testing the EBI-ENA workspace system within the COMPARE pilot project.

| PRJEB26404 | ENA