Successes and Challenges of Optimal Trauma Care for Rural Family Physicians in Kansas

Introduction. Kansas has a regionalized trauma systemwith formal mechanisms for review, however, increasedcommunication with rural providers can uncover opportunitiesfor system process improvement. Therefore, thisqualitative study explored perceptions of family medicinephysicians staffing emergency departments (ED) in rural areas,specifically to determine what is going well and what areasneeded improvement in relation to the trauma system. Methods. A focus group included Kansas rural family physiciansrecruited from a local symposium for family medicinephysicians. Demographic information was collected via surveyprior to the focus group session, which was audiotaped.Research team members read the transcription, identifiedthemes, and grouped the findings into categories for analysis. Results. Seven rural family medicine physicians participated inthe focus group. The majority were male (71%) with the mean age46.71 years. All saw patients in the ED and had treated injuriesdue to agriculture, falls, and motor vehicle collisions. Participantsidentified successes in the adoption and enforcement of standardizedprocesses, specifically through level IV trauma centercertification and staff requirements for Advanced Trauma LifeSupport training. Communication breakdown during patient dischargeand skill maintenance were the most prevalent challenges. Conclusions. Even with an established regionalized traumasystem in the state of Kansas, there continues to be opportunitiesfor improvement. The challenges acknowledged byfocus group participants may not be identified through patientcase reviews (if conducted), therefore tertiary centersshould conduct system reviews with referring hospitals regularlyto improve systemic concerns. KS J Med 2017;10(1):12-16

A Survey Assessing Kansas Physician Assistants' Attitudes/Beliefs and Current Practices Regarding Implementation of Fall Prevention Strategies in Older Adults

Background. Falls are the leading cause of injury death, nursing home placement, and hospital trauma admissions in older adults. Although guidelines to reduce falls have been available for over a decade, routine implementation by healthcare providers is less than optimal. The purpose of this study was to evaluate the attitudes/beliefs and current practices of Kansas physician assistants (PAs) regarding fall assessment/prevention strategies in older adults and barriers to implementing strategies into daily practice. Methods. A 67-item survey was mailed to all 760 Kansas PAs in 2009; 152 responded. Logistic regressions were performed on current fall prevention practices (exercise, home safety, medications, and vision) to determine attitudes, beliefs, and barriers associated with implementation. Results. Most PAs believe falls are preventable (87%) and implementation of various prevention strategies are their professional responsibility (88% - 96%); yet, less than 50% routinely implement them. Barriers included lack of time (27%), lack of staff (26%), and feeling ill-prepared (18%). Multiple logistic regressions revealed correlations among implementing the medication review strategy and lack of time as well as practicing the exercise strategy and lack of time and awareness of local exercise programs. Conclusions. PAs are aware of the importance of fall prevention, believe falls are preventable, and believe it is their professional responsibility to implement fall prevention strategies with their older adult patients. However, most do not implement strategies in their practice due to a variety of internal and logistical barriers. Fall prevention materials/tools that are practical, simple, inexpensive, and require little implementation time may overcome barriers

Associations between Fall Distance, Age, and Trauma Outcomes in Older Adult Patients

Introduction. Falls are the leading cause of injury death amongolder adults. This study sought to determine if there are differencesbetween fall distance (ground level vs greater than groundlevel) and age (old vs very old) in terms of in-hospital mortality,orthopedic consultations, and neurological consultations. Methods. A retrospective trauma registry review was conductedof older adult patients (aged > 65 years), admitted to aMidwestern Level I trauma facility (2005 - 2010) due to a fall.Results. Of the 1,064 patients analyzed, the majority fell fromground level compared to greater than ground level (64% and36%, respectively). Median age was 80 years. Fall distance wasnot associated significantly with in-hospital mortality (OR0.88; CI 0.50 - 1.54) or neurological consultations (OR 1.02; CI0.72 - 1.43), but was associated with orthopedic consultations(OR 1.49; CI 1.09 - 2.04). Age was not associated with in-hospitalmortality or neurological or orthopedic consultations. Conclusions. Fall distance was not associated with in-hospitalmortality or receiving a neurological consultation.However, older adults who fell from greater than groundlevel were more likely to receive orthopedic consultations.There were no differences in in-hospital mortality or receivinga neurological or orthopedic consultation based onage. These findings indicated that as the older adult populationincreases, burden of care will increase for trauma centersand neurological services. KS J Med 2016;9(3):54-57

Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders

Genetic influences on psychiatric disorders transcend diagnostic boundaries, suggesting substantial pleiotropy of contributing loci. However, the nature and mechanisms of these pleiotropic effects remain unclear. We performed analyses of 232,964 cases and 494,162 controls from genome-wide studies of anorexia nervosa, attention-deficit/hyper-activity disorder, autism spectrum disorder, bipolar disorder, major depression, obsessive-compulsive disorder, schizophrenia, and Tourette syndrome. Genetic correlation analyses revealed a meaningful structure within the eight disorders, identifying three groups of inter-related disorders. Meta-analysis across these eight disorders detected 109 loci associated with at least two psychiatric disorders, including 23 loci with pleiotropic effects on four or more disorders and 11 loci with antagonistic effects on multiple disorders. The pleiotropic loci are located within genes that show heightened expression in the brain throughout the lifespan, beginning prenatally in the second trimester, and play prominent roles in neurodevelopmental processes. These findings have important implications for psychiatric nosology, drug development, and risk prediction.Peer reviewe

Genetic Overlap Between Alzheimer’s Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes

Background: Alzheimer's disease (AD) and bipolar disorder (BIP) are complex traits influenced by numerous common genetic variants, most of which remain to be detected. Clinical and epidemiological evidence suggest that AD and BIP are related. However, it is not established if this relation is of genetic origin. Here, we applied statistical methods based on the conditional false discovery rate (FDR) framework to detect genetic overlap between AD and BIP and utilized this overlap to increase the power to identify common genetic variants associated with either or both traits. Methods: We obtained genome wide association studies data from the International Genomics of Alzheimer's Project part 1 (17,008 AD cases and 37,154 controls) and the Psychiatric Genetic Consortium Bipolar Disorder Working Group (20,352 BIP cases and 31,358 controls). We used conditional QQ-plots to assess overlap in common genetic variants between AD and BIP. We exploited the genetic overlap to re-rank test-statistics for AD and BIP and improve detection of genetic variants using the conditional FDR framework. Results: Conditional QQ-plots demonstrated a polygenic overlap between AD and BIP. Using conditional FDR, we identified one novel genomic locus associated with AD, and nine novel loci associated with BIP. Further, we identified two novel loci jointly associated with AD and BIP implicating the MARK2 gene (lead SNP rs10792421, conjunctional FDR=0.030, same direction of effect) and the VAC14 gene (lead SNP rs11649476, conjunctional FDR=0.022, opposite direction of effect). Conclusions: We found polygenic overlap between AD and BIP and identified novel loci for each trait and two jointly associated loci. Further studies should examine if the shared loci implicating the MARK2 and VAC14 genes could explain parts of the shared and distinct features of AD and BIP

A genetic investigation of sex bias in the prevalence of attention-deficit/hyperactivity disorder

Background Attention-deficit/hyperactivity disorder (ADHD) shows substantial heritability and is 2-7 times more common in males than females. We examined two putative genetic mechanisms underlying this sex bias: sex-specific heterogeneity and higher burden of risk in female cases. Methods We analyzed genome-wide autosomal common variants from the Psychiatric Genomics Consortium and iPSYCH Project (20,183 cases, 35,191 controls) and Swedish populationregister data (N=77,905 cases, N=1,874,637 population controls). Results Genetic correlation analyses using two methods suggested near complete sharing of common variant effects across sexes, with rg estimates close to 1. Analyses of population data, however, indicated that females with ADHD may be at especially high risk of certain comorbid developmental conditions (i.e. autism spectrum disorder and congenital malformations), potentially indicating some clinical and etiological heterogeneity. Polygenic risk score (PRS) analysis did not support a higher burden of ADHD common risk variants in female cases (OR=1.02 [0.98-1.06], p=0.28). In contrast, epidemiological sibling analyses revealed that the siblings of females with ADHD are at higher familial risk of ADHD than siblings of affected males (OR=1.14, [95% CI: 1.11-1.18], p=1.5E-15). Conclusions Overall, this study supports a greater familial burden of risk in females with ADHD and some clinical and etiological heterogeneity, based on epidemiological analyses. However, molecular genetic analyses suggest that autosomal common variants largely do not explain the sex bias in ADHD prevalence

The genetics of the mood disorder spectrum:genome-wide association analyses of over 185,000 cases and 439,000 controls

Background Mood disorders (including major depressive disorder and bipolar disorder) affect 10-20% of the population. They range from brief, mild episodes to severe, incapacitating conditions that markedly impact lives. Despite their diagnostic distinction, multiple approaches have shown considerable sharing of risk factors across the mood disorders. Methods To clarify their shared molecular genetic basis, and to highlight disorder-specific associations, we meta-analysed data from the latest Psychiatric Genomics Consortium (PGC) genome-wide association studies of major depression (including data from 23andMe) and bipolar disorder, and an additional major depressive disorder cohort from UK Biobank (total: 185,285 cases, 439,741 controls; non-overlapping N = 609,424). Results Seventy-three loci reached genome-wide significance in the meta-analysis, including 15 that are novel for mood disorders. More genome-wide significant loci from the PGC analysis of major depression than bipolar disorder reached genome-wide significance. Genetic correlations revealed that type 2 bipolar disorder correlates strongly with recurrent and single episode major depressive disorder. Systems biology analyses highlight both similarities and differences between the mood disorders, particularly in the mouse brain cell-types implicated by the expression patterns of associated genes. The mood disorders also differ in their genetic correlation with educational attainment – positive in bipolar disorder but negative in major depressive disorder. Conclusions The mood disorders share several genetic associations, and can be combined effectively to increase variant discovery. However, we demonstrate several differences between these disorders. Analysing subtypes of major depressive disorder and bipolar disorder provides evidence for a genetic mood disorders spectrum

Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders.

Multiplex families with a high prevalence of a psychiatric disorder are often examined to identify rare genetic variants with large effect sizes. In the present study, we analysed whether the risk for bipolar disorder (BD) in BD multiplex families is influenced by common genetic variants. Furthermore, we investigated whether this risk is conferred mainly by BD-specific risk variants or by variants also associated with the susceptibility to schizophrenia or major depression. In total, 395 individuals from 33 Andalusian BD multiplex families (166 BD, 78 major depressive disorder, 151 unaffected) as well as 438 subjects from an independent, BD case/control cohort (161 unrelated BD, 277 unrelated controls) were analysed. Polygenic risk scores (PRS) for BD, schizophrenia (SCZ), and major depression were calculated and compared between the cohorts. Both the familial BD cases and unaffected family members had higher PRS for all three psychiatric disorders than the independent controls, with BD and SCZ being significant after correction for multiple testing, suggesting a high baseline risk for several psychiatric disorders in the families. Moreover, familial BD cases showed significantly higher BD PRS than unaffected family members and unrelated BD cases. A plausible hypothesis is that, in multiplex families with a general increase in risk for psychiatric disease, BD development is attributable to a high burden of common variants that confer a specific risk for BD. The present analyses demonstrated that common genetic risk variants for psychiatric disorders are likely to contribute to the high incidence of affective psychiatric disorders in the multiplex families. However, the PRS explained only part of the observed phenotypic variance, and rare variants might have also contributed to disease development