Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays.

Individually rare, large copy number variants (CNVs) contribute to genetic vulnerability for schizophrenia. Unresolved questions remain, however, regarding the anticipated yield of clinical microarray testing in schizophrenia. Using high-resolution genome-wide microarrays and rigorous methods, we investigated rare CNVs in a prospectively recruited community-based cohort of 459 unrelated adults with schizophrenia and estimated the minimum prevalence of clinically significant CNVs that would be detectable on a clinical microarray.

Incremental effects of comorbidity on quality of life in patients with psoriatic arthritis.

Objective: To assess the added effect of comorbidity on quality of life (QOL) in psoriatic arthritis (PsA).

Methods: Between 2006 and 2012, 631 patients were recruited from the University of Toronto PsA Clinic. Using the clinical database, we ascertained the frequency of 15 comorbidities.

Rethinking the reference collection: exploring benchmarks and e-book availability.

Librarians in the Health Sciences Library System at the University of Pittsburgh explored the possibility of developing an electronic reference collection that would replace the print reference collection, thus providing access to these valuable materials to a widely dispersed user population. The librarians evaluated the print reference collection and standard collection development lists as potential benchmarks for the electronic collection, and they determined which books were available in electronic format. They decided that the low availability of electronic versions of titles in each benchmark group rendered the creation of an electronic reference collection using either benchmark impractical.

Underestimating physical function gains: comparing FIM motor subscale and interRAI post acute care activities of daily living scale.

Objective: To investigate the construct validity of the activities of daily living (ADLs) sections of 2 major systems developed to measure functional ability in rehabilitation settings. Health assessment systems can inform care planning as well as policy decision-making on service effectiveness. Frailty, comorbidity, and heterogeneity make it difficult to accurately measure health outcomes for older adults.

Early environmental exposures influence schizophrenia expression even in the presence of strong genetic predisposition.

There are few studies of environmental factors in familial forms of schizophrenia. We investigated whether childhood adversity or environmental factors were associated with schizophrenia in a familial sample where schizophrenia is associated with the NOSA1P gene. We found that a cumulative adversity index including childhood illness, family instability and cannabis use was significantly associated with narrow schizophrenia, independent of NOSA1P risk genotype, previously measured childhood trauma, covariates and familial clustering (adjusted odds ratio (95% confidence interval)=1.

Longitudinal study of the bidirectional association between pain and depressive symptoms in patients with psoriatic arthritis.

Objective: To test the bidirectional hypothesis that depressive symptoms influence changes in pain over time, and pain influences changes in depressive symptoms.

Methods: A total of 394 patients attending the University of Toronto Psoriatic Arthritis clinic were followed over a mean period of 7.5 years with annual assessments, including number of swollen joints (SJC), Health Assessment Questionnaire (HAQ), and the Medical Outcomes Survey Short Form 36 (SF-36).

Influence of discipline of provider and model of care on an arthritis educational intervention in primary care.

Objective: To identify both provider and organizational characteristics that predicted outcomes following an educational intervention (9-hour workshop and followup reinforcement activities) developed to improve the management of arthritis in primary care.

Methods: Providers completed a survey at baseline and at 6 months postworkshop, including a case scenario for early rheumatoid arthritis. Providers were asked how they would manage the case and their responses were coded to calculate a best practice score, ranging from 0-7.

Cardiovascular and other comorbidities in patients with psoriatic arthritis: a comparison with patients with psoriasis.

Objective: To determine whether the presence of psoriatic arthritis (PsA) is associated with greater comorbidity, in particular cardiovascular morbidity, compared to psoriasis without arthritis.

Methods: Six hundred eleven patients with PsA were recruited from the University of Toronto Psoriatic Arthritis Clinic and 449 psoriasis without arthritis patients were recruited from the University of Toronto Psoriasis Cohort. The clinical database was used to identify the prevalence of cardiovascular and other comorbidities in both PsA and psoriasis without arthritis patients.

Longitudinal analysis of fatigue in psoriatic arthritis.

Objective: To describe the longitudinal course of fatigue in psoriatic arthritis (PsA).

Methods: Our study included 390 patients who attended the University of Toronto Psoriatic Arthritis Clinic between 1998 and 2006 and who completed 2 or more administrations of the modified Fatigue Severity Scale (mFSS) at yearly intervals. Clinical data were used that corresponded to visits in which mFSS was administered.

Educational interventions for implementation of arthritis clinical practice guidelines in primary care: effects on health professional behavior.

Objective: The dissemination and adoption of clinical practice guidelines (CPG) has been suggested as one method for improving arthritis care delivery. This article provides a review and synthesis of studies evaluating the influence of educational programs designed to implement CPG for osteoarthritis (OA) and rheumatoid arthritis (RA) in primary care.

Methods: A systematic literature search was conducted to identify relevant educational interventions that reported behavioral outcomes that ensured actual knowledge utilization in primary care.

Childhood trauma and genetic factors in familial schizophrenia associated with the NOS1AP gene.

There is some evidence that childhood adversity may be associated with the expression of schizophrenia but whether genetic risk affects this finding is unknown. We investigated the history of early trauma in 194 subjects from 24 multiply affected families where schizophrenia was previously shown to be associated with a functional allele in the NOS1AP gene. In subjects with schizophrenia (n=79), only events prior to the onset of psychosis were considered.

Comparison of the responsiveness of the FIM and the interRAI post acute care assessment instrument in rehabilitation of older adults.

Objective: To compare the responsiveness of 2 major systems developed for rehabilitation settings--the FIM and the interRAI Post Acute Care (PAC) assessment--in older patients.

Design: Trained raters assessed patients with both tools at admission and discharge.

Setting: Musculoskeletal (MSK) and geriatric rehabilitation units (GRUs) in 2 rehabilitation hospitals.

Premature death in adults with 22q11.2 deletion syndrome.

Background: 22q11.2 deletion syndrome (22q11.2DS) is a multisystem disease with a prevalence of 1/4000.

Heritability of neurocognitive traits in familial schizophrenia.

Neurocognitive deficits are considered promising endophenotypes for gene discovery in schizophrenia. Understanding the heritability and genetic inter-relationships of neurocognitive traits could support their use as alternatives to diagnosis. Participants were 85 adults from 17 multiplex Canadian families with familial schizophrenia linked to 1q23 who had neurocognitive testing results available.

Occurrence and correlates of fatigue in psoriatic arthritis.

Objective: To determine the relationship between fatigue and disease-related and psychosocial variables in psoriatic arthritis (PsA).

Method: 499 patients attending the University of Toronto PsA Clinic were administered the modified fatigue severity scale (mFSS). At the time of mFSS administration, clinical and laboratory measures of disease activity and damage were recorded.

Self-reported dietary energy intake of normal weight, overweight and obese adolescents.

Objective: The purpose of the present paper was to assess dietary energy reporting as a function of sex and weight status among Ontario and Alberta adolescents, using the ratio of energy intake (EI) to estimated BMR (BMRest).

Design: Data were collected using the FBQ, a validated web-based dietary assessment tool (including a 24 h dietary recall, FFQ, and food and physical activity behavioural questions). BMI was calculated from self-reported height and weight and participants were classified as normal weight, overweight or obese.

Did the pattern of practice in the prescription of palliative radiotherapy for the treatment of uncomplicated bone metastases change between 1999 and 2005 at the rapid response radiotherapy program?

Aims: Since 1999, randomised clinical trials and meta-analyses have reported equal efficacy of pain relief from single- and multiple-fraction radiotherapy for bone metastases. A number of factors, including limited radiotherapy resources, waiting times, and patient convenience, suggest single fraction to be the treatment of choice for patients. However, international patterns of practice indicate that multiple fractions are still commonly used.

A longitudinal study of the effect of disease activity and clinical damage on physical function over the course of psoriatic arthritis: Does the effect change over time?

Objective: To investigate whether there are differential effects of disease activity and damage on physical functioning as measured by the Health Assessment Questionnaire (HAQ) over the course of psoriatic arthritis (PsA).

Methods: Between June 1993 and March 2005, 382 patients attending the University of Toronto PsA clinic had completed > or =2 HAQs on an annual basis. At the time of each HAQ assessment, clinical and laboratory measures of disease activity and damage were recorded.

Changing self-perception: success in independent living for individuals with chronic mental illness.

Rates of rehospitalization of individuals with serious and persistent mental illness were compared prior to and after they were moved into 4-bed corporate foster homes. Results showed a significant drop in the number of rehospitalizations and in the total number of days hospitalized after moving into a 4-bed home. The data suggest that living in a 4-bed home-like environment may result in significantly fewer and shorter hospitalizations for these types of mentally ill individuals.

Review of patterns of practice and patients' preferences in the treatment of bone metastases with palliative radiotherapy.

Introduction: Since the 1980s, randomized clinical trials showed that single fraction radiotherapy (RT) provided equal pain relief as multiple fractions of RT in the treatment of bone metastases.

Materials And Methods: Using Medline, a literature search was conducted on patterns of practice among radiation oncologists and patients' preferences of dose fractionations for the treatment of bone metastases.

Results And Discussion: Fifteen studies on international patterns of practice published between 1966 and May 2006 were identified.

Heritability of schizophrenia and major affective disorder as a function of age, in the presence of strong cohort effects.

It remains unclear whether age at onset for major psychiatric disorders is a useful marker of etiologic and genetic heterogeneity. The authors examined how heritability of schizophrenia and major affective disorders varied with age at onset. The sample was drawn from a large archival data set collected by Lionel Penrose, comprising 3,109 families with two or more members first hospitalized in Ontario between 1874 and 1944.

Clinical features of 78 adults with 22q11 Deletion Syndrome.

22q11 Deletion Syndrome (22q11DS) is a common microdeletion syndrome with multisystem expression. Phenotypic features vary with age, ascertainment, and assessment. We systematically assessed 78 adults (36 M, 42 F; mean age 31.