Routine Laboratory Testing Every 4 Versus Every 6 Weeks for Patients on Maintenance Hemodialysis: A Quality Improvement Project

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Copy number variants in people with autism spectrum disorders and co-morbid psychosis

The genetic association between autism spectrum disorder (ASD) and psychotic disorders such as schizophrenia is complicated and mirrors the clinical overlap between these conditions to some degree. However, no studies to date have examined the genetics of individuals dually diagnosed with both ASD and psychosis. In this study, we present findings of copy number variants (CNVs) from a study of 116 well-characterised individuals with this dual diagnosis. DNA was extracted and arrayed using the Affymetrix CytoScan HD 2.8M array or the Affymetrix Cytogenetics arrays and compared with existing samples from the Database of Genomic Variants and the Simons Simplex Collection of CNVs from individuals with ASD and their families. Twenty-seven novel CNVs ≥20k base pairs were identified in the sample, most occurring in only a single individual, although two were found in two female participants. Forty-nine rare CNVs (<1.5% rate in general population) were also found at significantly higher frequencies than expected. The findings may provide evidence for areas of further study in the understanding of the development of both ASD and psychosis due to the number of affected genetic regions that have not previously been linked to these conditions.     

The Influence of Age,Sex, and Posture on the Measurement of Atlantodental Interval in a Normal Population

ObjectiveThe atlantodental interval (ADI) is used in assessing atlantoaxial stability. This measurement may potentially be affected by several features encountered during patient examination. This study examined the influence of 3 features: age, sex, and posture, on the measurement of ADI in a normal population.MethodsThe ADI was measured sequentially on 269 lateral cervical radiographs of adults with no demonstrated bony injury. Images were stratified by age and sex with equal representation in each age group. A further 25 asymptomatic adults were assessed for posture using craniovertebral angle measured from digital lateral photographs. The ADI was then measured from a lateral radiograph. The data were examined for correlation between age, craniovertebral angle, and ADI using Spearman rank correlation. The ADI of age groups was compared by Kruskal-Wallis test. The relationship between ADI and sex was examined using Wilcoxon rank sum test. Interaction between age and sex was explored using an interaction term in regression analysis.ResultsThe ADI decreased with age, median measurements reducing from 2.07 to 0.85 mm across age groups (P < .01). No significant relationship was demonstrated between ADI and sex. No significant interaction was demonstrated between age and sex. Measurements of craniovertebral angle did not correlate with ADI (ρ = 0.03, P = .90).ConclusionThe magnitude of ADI decreases with advancing age. Age should be considered a modifying factor when interpreting measurement of ADI, particularly in consideration of potential minor instabilities. Patient sex does not appear to influence ADI, either independently or in interaction with age. Craniocervical posture variation does not influence ADI in an asymptomatic adult population.     

The Value of Electrocardiographic Abnormalities in the Prognosis of Pulmonary Embolism: A Consensus Paper

Electrocardiographic (ECG) abnormalities in the setting of acute pulmonary embolism (PE) are being increasingly characterized and mounting evidence suggests that ECG plays a valuable role in prognostication for PE. We review the historical 21‐point ECG prognostic score for the severity of PE and examine the updated evidence surrounding the utility of ECG abnormalities in prognostication for severity of acute PE. We performed a literature search of MEDLINE, EMBASE, and PubMed up to February 2015. Article titles and abstracts were screened, and articles were included if they were observational studies that used a surface 12‐lead ECG as the instrument for measurement, a diagnosis of PE was confirmed by imaging, arteriography or autopsy, and analysis of prognostic outcomes was performed. Thirty‐six articles met our inclusion criteria. We review the prognostic value of ECG abnormalities included in the 21‐point ECG score, including new evidence that has arisen since the time of its publication. We also discuss the potential prognostic value of several ECG abnormalities with newly identified prognostic value in the setting of acute PE.