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16 results

  • Twins, Tissue, and Time: An Assessment of SNPs and CNVs

  • Paul Scheet, Erik A. Ehli, Xiangjun Xiao, Catharina E. M. van Beijsterveldt, Abdel Abdellaoui, Robert R. Althoff, Jouke Jan Hottenga, Gonneke Willemsen, Kelly A. Nelson, Patricia E. Huizenga, Yueshan Hu, Christopher I. Amos, Meike Bartels, Maria M Groen-Blokhuis, Eco JC de Geus, James J. Hudziak, Gareth E. Davies, Dorret I. Boomsma
  • Journal:
    Twin Research and Human Genetics / Volume 15 / Issue 6 / December 2012
    Published online by Cambridge University Press:
    28 September 2012, pp. 737-745
    • Article
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  • With the desire to assess genetic variation across the lifespan in large-scale collaborative projects, one question is whether inference of copy number (CN) is sensitive to the source of material for deoxyribonucleic acid (DNA) analysis (e.g., blood and buccal) and another question is whether CN is stable as individuals age. Here, we address these questions by applying Affymetrix 6.0 single nucleotide polymorphism (SNP) micro-arrays to 1,472 DNA samples from 710 individuals from the Netherlands Twin Register, including twin and non-twin individuals (372 with buccal and blood derived DNA and 388 with longitudinal data). Similar concordance for CN and genotype inference between samples from the same individual [or from the monozygotic (MZ) co-twins] was found for blood and buccal tissues. There was a small but statistically significant decrease in across-tissue concordance compared with concordance of samples from the same tissue type. No temporal effect was seen on CN variation from the 388 individuals sampled at two time points ranging from 1 to 12 years apart. The majority of our individuals were sampled at age younger than 20 years. Genotype concordance was very high (R2 > 99%) between co-twins from 43 MZ pairs. For 75 dizygotic (DZ) pairs, R2 was ≈65%. CN estimates were highly consistent between co-twins from MZ pairs for both deletions (R2 ≈ 90%) and duplications (R2 ≈ 86%). For DZ, these were similar for within-individual comparisons, but naturally lower between co-twins (R2 ≈ 50–60%). These results suggest that DNA from buccal samples perform as well as DNA from blood samples on the current generation of micro-array technologies.

Psychosomatic Medicine
  • An Introduction to Consultation-Liaison Psychiatry
  • Edited by James J. Amos, Robert G. Robinson
  • Published online:
    04 August 2010
    Print publication:
    27 May 2010
  • Psychosomatic medicine or consultation-liaison psychiatry is the branch of psychiatry that focuses on the mental health issues which accompany, or develop as a result of, other medical disorders. This subdiscipline forms an important part of training in psychiatry. This book provides an ideal first exposure to the inseparable nature of physical and psychological health and illness, and a comprehensive introduction to the broad range of disorders seen on the psychiatric consult service. Organized into a series of bitesized chapters, each focusing on a typical consult question, this handbook provides a practical and portable reference which should set both strategy and tactics for the next generation of consulting psychiatrists. Essential reading for medical students, psychiatry residents and psychosomatic fellows, this manual will provide immediate, in-the-field guidance on the evaluation and management of common consultation requests.

  • Chapter 20 - Management of psychiatric syndromes due to endocrine and metabolic diseases

  • Edited by James J. Amos, University of Iowa, Robert G. Robinson, University of Iowa
  • Book:
    Psychosomatic Medicine
    Published online:
    04 August 2010
    Print publication:
    27 May 2010, pp 184-192

  • Summary

    The first step in treating a patient with Parkinson's disease (PD) and psychiatric symptoms is ensuring that the patient actually has PD. No disease-modifying treatments or neuroprotective drugs exist for PD. Treatments include levodopa; dopamine agonists such as pramipexole, ropinirole, and apomorphine; monoamine oxidase inhibitors such as seligiline and rasagaline; and glutamatergic antagonists such as amantadine. Psychiatric symptoms are highly prevalent in PD, but are often unrecognized and undertreated, and are easily missed if not specifically investigated. Psychotherapy is evidence based treatment for many idiopathic psychiatric disorders, and does not cause side effects or worsen motor symptoms. The specific psychiatric disorders in Parkinson's disease are: mood disorders, anxiety disorders, psychotic disorders and cognitive disorders. The other psychiatric symptoms in Parkinson's disease are: delirium, sleep disorders, and sexual disorders.

  • Chapter 5 - Suicide risk assessment

  • Edited by James J. Amos, University of Iowa, Robert G. Robinson, University of Iowa
  • Book:
    Psychosomatic Medicine
    Published online:
    04 August 2010
    Print publication:
    27 May 2010, pp 51-57

  • Summary

    The components of a suicide risk assessment should be easy to remember, be based on empirically demonstrable essential features, be readily transferable from emergency room or intensive care unit to consulting room, foster a therapeutic alliance, facilitate the gathering of valid information, and guide treatment decisions. Often after a serious suicide attempt, the patient suffers from medical complications while at the same time needing intensive psychiatric evaluation and treatment. Medical-psychiatry units (MPUs) can fill this gap in care for those with combined, complex medical and psychiatric illness. It is very important to restrain other physicians from automatically prescribing antidepressants for every medically ill patient who expresses a wish to die, which tends to pathologize normal grieving and leads to the overuse of psychotropic drugs. No empirical evidence has been found to support no-suicide or no-harm contracts; these contracts do not prevent suicides, nor do they protect one against malpractice lawsuits.

  • Chapter 9 - Managing factitious disorder and malingering

  • Edited by James J. Amos, University of Iowa, Robert G. Robinson, University of Iowa
  • Book:
    Psychosomatic Medicine
    Published online:
    04 August 2010
    Print publication:
    27 May 2010, pp 82-88

  • Summary

    Physicians make at least an informal decision on a continual basis regarding the patient's ability to give informed consent. The difference between competency and capacity is a common misconception, and the terms, competency and capacity, are often used interchangeably in consult requests. Capacity is often considered an all-or-none phenomenon, and this may be the most common fallacy. The most common diagnoses which prompt request for capacity evaluation include dementia and delirium. Other diagnoses include substance abuse, affective disorders, personality factors, and psychotic disorders. Some states have laws which limit the ability to give consent to medical treatment for certain groups of patients. For instance, patients who are involuntarily committed for mental illness in Louisiana may not give consent for major surgery without a court order. Denial, a defense mechanism utilized to avoid unpleasant effects by denying aspects of reality, can be helpful for patients in some cases.

  • Chapter 6 - Assessment and management of the violent patient

  • Edited by James J. Amos, University of Iowa, Robert G. Robinson, University of Iowa
  • Book:
    Psychosomatic Medicine
    Published online:
    04 August 2010
    Print publication:
    27 May 2010, pp 58-63

  • Summary

    To manage the agitated patient, it's critical to understand the origin of the behavior. This doesn't mean theorizing about the neurobiological underpinnings. Offering to inject the patient with an antipsychotic would not usually be welcomed as a first intervention. No specific medication is approved by the FDA for control of agitation and combative behavior. Droperidol is another very effective agent, although recent FDA black box warnings about the risk for cardiac arrhythmias and case reports of sudden death reported with its use have led to greater caution. Antipsychotics often provide non-specific but effective control of violent behavior regardless of its cause. Haloperidol is the most studied agent. Agitation of delirium is generally responsive to monotherapy with antipsychotics, and haloperidol is the agent with which physicians have the most experience and for which efficacy is best supported by the medical literature.