Fibrodysplasia Ossificans Progressiva -Second Skeleton

For my poster presentation, I chose how disease, illness, and sickness are defined differently in medicine. Specifically, the humanities bring awareness to treating the person as a whole rather than their prognosis. The ability to differentiate the aforementioned criteria allows for the individual to have the best treatment and outcome. I decided to show how within Fibrodysplasia Ossificans Progressiva (FOP) there are different definitions of the diagnosis. The poster delves into the definition of disease as the medical definition of the diagnosis—essentially, what the doctor informs to the patient. With FOP, common characteristic of the disease include stiff rigidity of the shoulders and neck, the inability to walk, and randomized flare-ups that cause painful calcified growths muscles and tissues that surrounds the skeleton. Illness is how the individual experiences their own prognosis. Jasmin Floyd is an activist who, through social media, has brought awareness to FOP and how she has learned to live with the terminal diagnosis. Sickness is how society has stigmatized the diagnosis. Flare-ups due to FOP cause people to look different than others. Creating a hurdle that may not have been addressed in the disease diagnosis as something an individual has to think of. How will society view me? Comments like mannequin and statue are a few examples of the negative connotations used. To conclude, the humanities in health care bring awareness to treating the person as a whole rather than their prognosis. Having the ability to differentiate the aforementioned criteria allows for the individual to have the best treatment and outcome. skeleton, FOP, disease, illness, sicknesshttps://digitalcommons.misericordia.edu/research_posters2021/1000/thumbnail.jp

Use of CT to Diagnose Subcutaneous Emphysema (SE)

Subcutaneous emphysema is a follow up symptom to a traumatic event, surgery, or nose-blowing. In addition subcutaneous emphysema is considered benign and self limiting. Computed tomography (CT) is the imaging modality of choice for diagnosing subcutaneous emphysema. CT is preferred because of its sensitivity to tissue densities. A CT will demonstrate dark air pockets within the subcutaneous layer of the skin. Furthermore, upon palpation of the the skin a crepitus crackling sound is demonstrated. Moreover, listening to the skin with a stethoscope will emit a high-frequency acoustic sound. Nevertheless, extensive subcutaneous emphysema may require medical assistance. Typically, orbital subcutaneous emphysema is non-life threatening and will resolve within a few days as the body absorbs the air. If the air is extensive and compresses on the optic nerve medical attention is required to prevent vision loss. In addition, traumatic subcutaneous emphysema may be caused from pneumothorax or other blunt trauma. The air rises and spreads within the body and can travel though different anatomical planes. Lastly, subcutaneous emphysema may be a complication of surgical procedures. Individuals are susceptible to suffering from subcutaneous emphysema after procedures like colonoscopies. To conclude, subcutaneous emphysema is a symptom that can be diagnosed by CT and is relatively harmless. Keywords: Subcutaneous emphysema, CT, benign, crepitushttps://digitalcommons.misericordia.edu/medimg_seniorposters/1032/thumbnail.jp

Dissecting the Shared Genetic Architecture of Suicide Attempt, Psychiatric Disorders, and Known Risk Factors

Background Suicide is a leading cause of death worldwide, and nonfatal suicide attempts, which occur far more frequently, are a major source of disability and social and economic burden. Both have substantial genetic etiology, which is partially shared and partially distinct from that of related psychiatric disorders. Methods We conducted a genome-wide association study (GWAS) of 29,782 suicide attempt (SA) cases and 519,961 controls in the International Suicide Genetics Consortium (ISGC). The GWAS of SA was conditioned on psychiatric disorders using GWAS summary statistics via multitrait-based conditional and joint analysis, to remove genetic effects on SA mediated by psychiatric disorders. We investigated the shared and divergent genetic architectures of SA, psychiatric disorders, and other known risk factors. Results Two loci reached genome-wide significance for SA: the major histocompatibility complex and an intergenic locus on chromosome 7, the latter of which remained associated with SA after conditioning on psychiatric disorders and replicated in an independent cohort from the Million Veteran Program. This locus has been implicated in risk-taking behavior, smoking, and insomnia. SA showed strong genetic correlation with psychiatric disorders, particularly major depression, and also with smoking, pain, risk-taking behavior, sleep disturbances, lower educational attainment, reproductive traits, lower socioeconomic status, and poorer general health. After conditioning on psychiatric disorders, the genetic correlations between SA and psychiatric disorders decreased, whereas those with nonpsychiatric traits remained largely unchanged. Conclusions Our results identify a risk locus that contributes more strongly to SA than other phenotypes and suggest a shared underlying biology between SA and known risk factors that is not mediated by psychiatric disorders.Peer reviewe

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

publisher: Elsevier articletitle: Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes journaltitle: Cell articlelink: https://doi.org/10.1016/j.cell.2018.05.046 content_type: article copyright: © 2018 Elsevier Inc

A polygenic resilience score moderates the genetic risk for schizophrenia.

Based on the discovery by the Resilience Project (Chen R. et al. Nat Biotechnol 34:531-538, 2016) of rare variants that confer resistance to Mendelian disease, and protective alleles for some complex diseases, we posited the existence of genetic variants that promote resilience to highly heritable polygenic disorders1,0 such as schizophrenia. Resilience has been traditionally viewed as a psychological construct, although our use of the term resilience refers to a different construct that directly relates to the Resilience Project, namely: heritable variation that promotes resistance to disease by reducing the penetrance of risk loci, wherein resilience and risk loci operate orthogonal to one another. In this study, we established a procedure to identify unaffected individuals with relatively high polygenic risk for schizophrenia, and contrasted them with risk-matched schizophrenia cases to generate the first known "polygenic resilience score" that represents the additive contributions to SZ resistance by variants that are distinct from risk loci. The resilience score was derived from data compiled by the Psychiatric Genomics Consortium, and replicated in three independent samples. This work establishes a generalizable framework for finding resilience variants for any complex, heritable disorder

A comparison of ten polygenic score methods for psychiatric disorders applied across multiple cohorts

Background: Polygenic scores (PGSs), which assess the genetic risk of individuals for a disease, are calculated as a weighted count of risk alleles identified in genome-wide association studies (GWASs). PGS methods differ in which DNA variants are included and the weights assigned to them; some require an independent tuning sample to help inform these choices. PGSs are evaluated in independent target cohorts with known disease status. Variability between target cohorts is observed in applications to real data sets, which could reflect a number of factors, e.g., phenotype definition or technical factors. Methods: The Psychiatric Genomics Consortium working groups for schizophrenia (SCZ) and major depressive disorder (MDD) bring together many independently collected case control cohorts. We used these resources (31K SCZ cases, 41K controls; 248K MDD cases, 563K controls) in repeated application of leave-one-cohort-out meta-analyses, each used to calculate and evaluate PGS in the left-out (target) cohort. Ten PGS methods (the baseline PC+T method and nine methods that model genetic architecture more formally: SBLUP, LDpred2-Inf, LDpred-funct, LDpred2, Lassosum, PRS-CS, PRS-CS-auto, SBayesR, MegaPRS) are compared. Results: Compared to PC+T, the other nine methods give higher prediction statistics, MegaPRS, LDPred2 and SBayesR significantly so, up to 9.2% variance in liability for SCZ across 30 target cohorts, an increase of 44%. For MDD across 26 target cohorts these statistics were 3.5% and 59%, respectively. Conclusions: Although the methods that more formally model genetic architecture have similar performance, MegaPRS, LDpred2, and SBayesR rank highest in most comparison and are recommended in applications to psychiatric disorders