Institution
Royal Cornhill Hospital
Healthcare•Aberdeen, Scotland, United Kingdom•
About: Royal Cornhill Hospital is a healthcare organization based out in Aberdeen, Scotland, United Kingdom. It is known for research contribution in the topics: Mental health & Eating disorders. The organization has 253 authors who have published 332 publications receiving 17941 citations. The organization is also known as: Aberdeen Lunatic Asylum.
Topics: Mental health, Eating disorders, Population, Cognition, Anorexia nervosa (differential diagnoses)
Papers published on a yearly basis
Papers
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deCODE genetics1, Ludwig Maximilian University of Munich2, University of Bonn3, Utrecht University4, Copenhagen University Hospital5, University of Copenhagen6, GlaxoSmithKline7, Hammersmith Hospital8, Duke University9, Royal Cornhill Hospital10, King's College London11, University of Verona12, Sichuan University13, University of Oslo14, Glostrup Hospital15, Radboud University Nijmegen Medical Centre16, University of California, Los Angeles17, Heidelberg University18, Wellcome Trust Sanger Institute19, Broad Institute20, University of Iceland21
TL;DR: In a genome-wide search for CNVs associating with schizophrenia, a population-based sample was used to identify de novo CNVs by analysing 9,878 transmissions from parents to offspring and three deletions significantly associate with schizophrenia and related psychoses in the combined sample.
Abstract: Reduced fecundity, associated with severe mental disorders, places negative selection pressure on risk alleles and may explain, in part, why common variants have not been found that confer risk of disorders such as autism, schizophrenia and mental retardation. Thus, rare variants may account for a larger fraction of the overall genetic risk than previously assumed. In contrast to rare single nucleotide mutations, rare copy number variations (CNVs) can be detected using genome-wide single nucleotide polymorphism arrays. This has led to the identification of CNVs associated with mental retardation and autism. In a genome-wide search for CNVs associating with schizophrenia, we used a population-based sample to identify de novo CNVs by analysing 9,878 transmissions from parents to offspring. The 66 de novo CNVs identified were tested for association in a sample of 1,433 schizophrenia cases and 33,250 controls. Three deletions at 1q21.1, 15q11.2 and 15q13.3 showing nominal association with schizophrenia in the first sample (phase I) were followed up in a second sample of 3,285 cases and 7,951 controls (phase II). All three deletions significantly associate with schizophrenia and related psychoses in the combined sample. The identification of these rare, recurrent risk variants, having occurred independently in multiple founders and being subject to negative selection, is important in itself. CNV analysis may also point the way to the identification of additional and more prevalent risk variants in genes and pathways involved in schizophrenia.
1,767 citations
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deCODE genetics1, Maastricht University Medical Centre2, Utrecht University3, University of California, Los Angeles4, University of Oslo5, University of Bonn6, Ludwig Maximilian University of Munich7, Copenhagen University Hospital8, Wellcome Trust Sanger Institute9, Aarhus University Hospital10, Aarhus University11, University of Iceland12, University of Helsinki13, Bispebjerg Hospital14, Glostrup Hospital15, Heidelberg University16, Semmelweis University17, University of Verona18, Radboud University Nijmegen Medical Centre19, Russian Academy20, University of Valencia21, King's College London22, Royal Cornhill Hospital23, Duke University24, University of Santiago de Compostela25, Hospital General Universitario Gregorio Marañón26, Karolinska Institutet27, Hammersmith Hospital28, GlaxoSmithKline29, Sichuan University30
TL;DR: Findings implicating the MHC region are consistent with an immune component to schizophrenia risk, whereas the association with NRGN and TCF4 points to perturbation of pathways involved in brain development, memory and cognition.
Abstract: Schizophrenia is a complex disorder, caused by both genetic and environmental factors and their interactions. Research on pathogenesis has traditionally focused on neurotransmitter systems in the brain, particularly those involving dopamine. Schizophrenia has been considered a separate disease for over a century, but in the absence of clear biological markers, diagnosis has historically been based on signs and symptoms. A fundamental message emerging from genome-wide association studies of copy number variations (CNVs) associated with the disease is that its genetic basis does not necessarily conform to classical nosological disease boundaries. Certain CNVs confer not only high relative risk of schizophrenia but also of other psychiatric disorders. The structural variations associated with schizophrenia can involve several genes and the phenotypic syndromes, or the 'genomic disorders', have not yet been characterized. Single nucleotide polymorphism (SNP)-based genome-wide association studies with the potential to implicate individual genes in complex diseases may reveal underlying biological pathways. Here we combined SNP data from several large genome-wide scans and followed up the most significant association signals. We found significant association with several markers spanning the major histocompatibility complex (MHC) region on chromosome 6p21.3-22.1, a marker located upstream of the neurogranin gene (NRGN) on 11q24.2 and a marker in intron four of transcription factor 4 (TCF4) on 18q21.2. Our findings implicating the MHC region are consistent with an immune component to schizophrenia risk, whereas the association with NRGN and TCF4 points to perturbation of pathways involved in brain development, memory and cognition.
1,625 citations
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TL;DR: The results of karyotypic, clinical, and ERP investigations of this family suggest that the recently described genes DISC1 and DISC2, which are directly disrupted by the breakpoint on chromosome 1, may have a role in the development of a disease phenotype that includes schizophrenia as well as unipolar and bipolar affective disorders.
Abstract: A family with a (1;11)(q42;q14.3) translocation significantly linked to a clinical phenotype that includes schizophrenia and affective disorders is described. This translocation generates a LOD score of 3.6 when the disease phenotype is restricted to schizophrenia, of 4.5 when the disease phenotype is restricted to affective disorders, of 7.1 when relatives with recurrent major depression, with bipolar disorder, or with schizophrenia are all classed as affected. This evidence for linkage is among the strongest reported for a psychiatric disorder. Family members showed no distinctive features by which the psychiatric phenotype could be distinguished from unrelated cases of either schizophrenia or affective disorders, and no physical, neurological, or dysmorphic conditions co-occurred with psychiatric symptoms. Translocation carriers and noncarriers had the same mean intelligence quotient. Translocation carriers were similar to subjects with schizophrenia and different from noncarriers and controls, in showing a significant reduction in the amplitude of the P300 event-related potential (ERP). Furthermore, P300 amplitude reduction and latency prolongation were measured in some carriers of the translocation who had no psychiatric symptoms—a pattern found in other families with multiple members with schizophrenia, in which amplitude of and latency of P300 appear to be trait markers of risk. The results of karyotypic, clinical, and ERP investigations of this family suggest that the recently described genes DISC1 and DISC2, which are directly disrupted by the breakpoint on chromosome 1, may have a role in the development of a disease phenotype that includes schizophrenia as well as unipolar and bipolar affective disorders.
754 citations
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TL;DR: The construction and development of a brief, self-report measure of cognitive fusion: The Cognitive Fusion Questionnaire (CFQ), which shows good preliminary evidence of the CFQ's factor structure, reliability, temporal stability, validity, discriminant validity, and sensitivity to treatment effects.
571 citations
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TL;DR: The mental health and emotional well-being of ambulance personnel appear to be compromised by accident and emergency work.
Abstract: Background The association between mental health and occupational factors among ambulance personnel has not been thoroughly investigated in the UK.
Aims To identify the prevalence of psychopathology among ambulance personnel and its relationship to personality and exposure to critical incidents.
Method Data were gathered from ambulance personnel by means of an anonymous questionnaire and standardised measures.
Results Approximately a third of the sample reported high levels of general psychopathology, burnout and posttraumatic symptoms. Burnout was associated with less job satisfaction, longer time in service, less recovery time between incidents, and more frequent exposure to incidents. Burnout and GHQ-28 caseness were more likely in those who had experienced a particularly disturbing incident in the previous 6 months. Concerns about confidentiality and career prospects deter staff from seeking personal help.
Conclusions The mental health and emotional well-being of ambulance personnel appear to be compromised by accident and emergency work.
506 citations
Authors
Showing all 253 results
Name | H-index | Papers | Citations |
---|---|---|---|
Klaus P. Ebmeier | 77 | 375 | 21018 |
Keith Matthews | 75 | 288 | 24554 |
Julie A. Simpson | 71 | 344 | 17809 |
Lawrence J. Whalley | 62 | 195 | 14050 |
Francesco Benedetti | 60 | 286 | 12961 |
David St Clair | 44 | 73 | 34582 |
Ian C. Reid | 35 | 79 | 5374 |
John M. Eagles | 31 | 103 | 3184 |
Helen C. Fox | 31 | 46 | 3970 |
Roy L. Soiza | 29 | 116 | 2837 |
Justin H. G. Williams | 27 | 74 | 4986 |
David A. Alexander | 27 | 92 | 3288 |
Helen Cheyne | 26 | 98 | 2063 |
Roger Baker | 25 | 49 | 2051 |
Susan Simpson | 25 | 66 | 2272 |