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Penetrance Estimates For Incidental Genomic Findings In Acmg-59, James A. Diao 2017 Yale University

Penetrance Estimates For Incidental Genomic Findings In Acmg-59, James A. Diao

Yale Day of Data

The dropping costs and rising popularity of next-generation sequencing has introduced the possibility of personalizing medical treatments and screening for genetic diseases. Still, the clinical community’s understanding remains incomplete, with limited consensus on the proper interpretation for many genetic variants. Thus, the standard procedure when returning sequencing results has been to report findings only in genes related to the diagnostic indication, and not incidental findings in other genes. To balance the threat of false positives with the medical benefits of true findings, the American College on Medical Genetics and Genomics (ACMG) recommends an exception: that clinical sequencing laboratories seek ...


A Multi-Channel 3d-Printed Bioreactor For Evaluation Of Growth And Production In The Microalga Dunaliella Sp, Cristian A. Cox 2016 University of Maine

A Multi-Channel 3d-Printed Bioreactor For Evaluation Of Growth And Production In The Microalga Dunaliella Sp, Cristian A. Cox

Electronic Theses and Dissertations

We explored the capabilities of additive manufacturing using a photo-cured jetted material 3D printer to manufacture a milli-microfluidic device with direct application in microalgae Dunaliella sp growth and intracellular compounds biosynthesis tests. A continuous microbioreactor for microalgae culture was CAD designed and successfully built in 1 hour and 49 minutes using black photopolymer cured by UV and a support material. The microreactor was made up of 2 parts including the bioreactor itself and a microchannel network for culture media fluids and microalgae. Both parts were assembled to form a single unit. Additional optical and auxiliar components were added. An external ...


Can Bedside Ultrasound Inferior Vena Cava Measurements Accurately Diagnose Congestive Heart Failure In The Emergency Department? A Clin-Iq, Miranda Gaskamp, Mark Blubaugh, Laine H. McCarthy, Dewey C. Scheid 2016 Northeastern Health Systems

Can Bedside Ultrasound Inferior Vena Cava Measurements Accurately Diagnose Congestive Heart Failure In The Emergency Department? A Clin-Iq, Miranda Gaskamp, Mark Blubaugh, Laine H. Mccarthy, Dewey C. Scheid

Journal of Patient-Centered Research and Reviews

Congestive heart failure (CHF) is a major cause of morbidity and mortality. Early diagnosis of CHF in patients presenting to the emergency department with undifferentiated dyspnea would allow clinicians to begin appropriate treatment more promptly. Current guidelines recommend B-type natriuretic peptide (BNP) levels for more accurate diagnosis of CHF in dyspneic patients. Although BNP levels are relatively inexpensive, the test is not usually performed at bedside and results may take up to an hour or more. BNP also may have a “gray zone” in which the values can neither confirm nor rule out CHF. BNP has a reported sensitivity of ...


Studying Medicine With Dyslexia: A Collaborative Autoethnography, Sebastian C.K. Shaw, John L. Anderson, Alec J. Grant 2016 Brighton and Sussex Medical School

Studying Medicine With Dyslexia: A Collaborative Autoethnography, Sebastian C.K. Shaw, John L. Anderson, Alec J. Grant

The Qualitative Report

The topic of this article is the experience of the impact of dyslexia on medical studies, explored using a collaborative autoethnographic methodological approach. The study was prompted by an initial and ongoing full search of the literature, which revealed an absence of autoethnographic research into the experiences of medical students with dyslexia. It has four aims: to provide an in-depth, multi-layered account of the impact of dyslexia on a UK undergraduate medical student; to help other students and academic support staff in similar situations; to outline improvements that could be made to medical and other educational curricula and examination procedures ...


Modern Evaluation Of Abdominal Trauma, Errington C. Thompson, MD, Chadwick J. Knight, MD 2016 Marshall University

Modern Evaluation Of Abdominal Trauma, Errington C. Thompson, Md, Chadwick J. Knight, Md

Errington Thompson

Abdominal trauma can be mysterious to some physicians. If patients are evaluated for being stable or unstable, then abdominal trauma can be easily managed. Using a combination of physical examination, ultrasound and CT scans, patients can be quickly and efficiently evaluated.


A Comparison Of Imaging Modalities For The Diagnosis Of Osteomyelitis, Brandon J. Smith, MD, Grant S. Buchanan, MD, Franklin D. Shuler, MD, PhD 2016 Marshall University, Joan C. Edwards School of Medicine

A Comparison Of Imaging Modalities For The Diagnosis Of Osteomyelitis, Brandon J. Smith, Md, Grant S. Buchanan, Md, Franklin D. Shuler, Md, Phd

Franklin D. Shuler

Osteomyelitis is an increasingly common pathology that often poses a diagnostic challenge to clinicians. Accurate and timely diagnosis is critical to preventing complications that can result in the loss of life or limb. In addition to history, physical exam, and laboratory studies, diagnostic imaging plays an essential role in the diagnostic process. This narrative review article discusses various imaging modalities employed to diagnose osteomyelitis: plain films, computed tomography (CT), magnetic resonance imaging (MRI), ultrasound, bone scintigraphy, and positron emission tomography (PET). Articles were obtained from Pubmed and screened for relevance to the topic of diagnostic imaging for osteomyelitis. The authors ...


Neural Networks: Using Biomarkers To Inform Diagnosis, Classification Of Disease And Approach To Therapy, Paula Grajdeanu 2016 Shenandoah University

Neural Networks: Using Biomarkers To Inform Diagnosis, Classification Of Disease And Approach To Therapy, Paula Grajdeanu

Annual Symposium on Biomathematics and Ecology: Education and Research

No abstract provided.


Book Review, Darold T. Barnum 2016 University of New Hampshire

Book Review, Darold T. Barnum

RISK: Health, Safety & Environment

Review of the following: HELENA CHMURA KRAEMER, EVALUATING MEDICAL TESTS: OBJECTIVE AND QUANTITATIVE GUIDELINES. (Sage Publications 1992). [295 pp.] Foreword A. John Rush, M.D. Acknowledgments, index, list of statistical notations, preface, references, and about the author. ISBN 0- 8039-4611-2 (cloth); 0-8039-4612-0 (paper). [Cloth $45.00, paper $22.50. 2455 Teller Road, Newbury Park CA 91320.1


Computer Aided Diagnosis Of Early Vascular Disease From Ultrasound Images, Liam N. Kavanagh 2016 Royal College of Surgeons in Ireland

Computer Aided Diagnosis Of Early Vascular Disease From Ultrasound Images, Liam N. Kavanagh

MD theses

This thesis consists of 2 separate ultrasound (US) based studies, performed with the common aim of improving the diagnosis of early vascular disease from US images.

Study 1

Introduction: Flow mediated dilatation (FMD) is an endothelium-dependent process reflecting the dilatation of a conduit artery when it is exposed to increased blood flow and therefore increased shear stress. FMD requires a healthy endothelium and is depressed in those with cardiovascular risk factors. Current 2D US assessment is limited as a research tool only secondary to variable reproducibility, technical difficulties and difficulties determining true diameter measurement. To our knowledge this is the ...


Book Reviews, John M. Gleason 2016 University of New Hampshire

Book Reviews, John M. Gleason

RISK: Health, Safety & Environment

Reviews of the books: Mark A. Rothstein, Medical Screening and the Employee Health Cost Crisis (BNA Books 1989). Foreword Edward L. Baker, MD, MPH. 296 pp. Notes, figures, tables, glossary of legal terms, glossary of medical and health care terms, table of cases and index. LC 89-977; ISBN 0-87179-628-7.

Robert Decresce, Mark Lifshitz, Adrianne Mazura, & Joseph Tilson, Drug Testing In The Workplace (ASCP Press and BNA Books 1989). Forewords by Edward Miller, JD and George Lundberg, MD. 278 pp. Notes, figures, tables, table of cases and index. LC 88-39191; ISBN 0-89189-260-5 (ASCP), 0-87179-588-4 (BNA). Both of these books deal with the topic of medical screening of employees. As indicated by the titles, Rothstein's book deals with various types of screening, with a focus on health costs, while DeCresce et al. focus on one ...


The Postfinasteride Syndrome; An Overview, David L. Rowland, Ion G. Motofei, Florian Popa, Vlad D. Constantin, Adriana Vasilache, Ioana Păunică, Cristian Bălălău, Georgeta P. Păunică, Petrisor Banu, Stana Păunică 2016 Valparaiso University, Department of Psychology

The Postfinasteride Syndrome; An Overview, David L. Rowland, Ion G. Motofei, Florian Popa, Vlad D. Constantin, Adriana Vasilache, Ioana Păunică, Cristian Bălălău, Georgeta P. Păunică, Petrisor Banu, Stana Păunică

Journal of Mind and Medical Sciences

As a 5-α reductase inhibitor, Finasteride has proven effective in ameliorating two conditions documented to be androgen dependent, namely male androgenic alopecia and benign prostatic hyperplasia. Therapeutic results are maintained as long as the drug is administered, with treatment cessation generally leading to the return of symptomatology for each condition. In addition, during the therapeutic phase, several adverse effects have been reported, some of which persist long or indefinitely after treatment cessation, known as “post-finasteride syndrome.”

Herein we present and discuss the most common finasteride side effects, along with a psycho-neuroendocrine rationale that could explain the persistence of many adverse ...


A Comparison Of Imaging Modalities For The Diagnosis Of Osteomyelitis, Brandon J. Smith, MD, Grant S. Buchanan, MD, Franklin D. Shuler, MD, PhD 2016 Marshall University, Joan C. Edwards School of Medicine

A Comparison Of Imaging Modalities For The Diagnosis Of Osteomyelitis, Brandon J. Smith, Md, Grant S. Buchanan, Md, Franklin D. Shuler, Md, Phd

Marshall Journal of Medicine

Osteomyelitis is an increasingly common pathology that often poses a diagnostic challenge to clinicians. Accurate and timely diagnosis is critical to preventing complications that can result in the loss of life or limb. In addition to history, physical exam, and laboratory studies, diagnostic imaging plays an essential role in the diagnostic process. This narrative review article discusses various imaging modalities employed to diagnose osteomyelitis: plain films, computed tomography (CT), magnetic resonance imaging (MRI), ultrasound, bone scintigraphy, and positron emission tomography (PET). Articles were obtained from Pubmed and screened for relevance to the topic of diagnostic imaging for osteomyelitis. The authors ...


Unconfessing Transgender: Dysphoric Youths And The Medicalization Of Madness In John Gower’S “Tale Of Iphis And Ianthe”, M W. Bychowski 2016 The George Washington University

Unconfessing Transgender: Dysphoric Youths And The Medicalization Of Madness In John Gower’S “Tale Of Iphis And Ianthe”, M W. Bychowski

Accessus

On the brink of the twenty-first century, Judith Butler argues in “Undiagnosing Gender” that the Diagnostic and Statistical Manual of Mental Disorders (DSM) defines the psychiatric condition of “Gender Identity Disorder” (or “Gender Dysphoria”) in ways that control biological diversity and construct “transgender” as a marginalized identity. By turning the study of gender away from vulnerable individuals and towards the broader systems of power, Butler works to liberate bodies from the medical mechanisms managing difference and precluding potentially disruptive innovations in forms of life and embodiment by creating categories of gender and disability.

Turning to the brink of the 15 ...


A Systematic Review Of Dual-Sensory Impairment In Older Adults, Abby F. Malawer 2016 Graduate Center, City University of New York

A Systematic Review Of Dual-Sensory Impairment In Older Adults, Abby F. Malawer

All Graduate Works by Year: Dissertations, Theses, and Capstone Projects

The elderly population (ages 65 years and older) in the United States is estimated to double between 2000 and 2030 to approximately 72 million people. Among this population, sensory impairment is a chronic disability. The combination of both hearing and vision impairment, referred to as dual-sensory impairment (DSI) is a chronic condition on the rise. The prevalence of DSI ranges from a low of 1.6% to as high as 22.5% depending on the population (Appollonio et al., 1995). Higher prevalence rates tend to emerge in populations receiving rehabilitative and hospital care. DSI impacts independent physical function and verbal ...


Diagnostic Practices Of Autism Spectrum Disorders In Brazil, Ana Claudia Vesper Manier Dias 2016 Andrews University

Diagnostic Practices Of Autism Spectrum Disorders In Brazil, Ana Claudia Vesper Manier Dias

Honors Theses

In Brazil, in spite of over half a million students with special needs in primary education, little research has been conducted about ASD diagnostic practices. This involves learning about the training that professionals are receiving, what diagnostic practices are being implemented on the field, and whether those are being contextualized according to the Brazilian culture. Students with special needs are directly affected by the results of diagnostic practices, since identifying the individuals is one of the first steps. Lack of understanding about that stage may lead to the problematic realities of underidentification or overidentification, exclusion of children who should receive ...


Acute Appendicitis: Transcript Profiling Of Blood Identifies Promising Biomarkers And Potential Underlying Processes, Lakhmir S. Chawla, Ian Toma, Danielle L. Davison, Khashayar Vaziri, Juliet Lee, Raymond Lucas, Michael G. Seneff, Aobhinn Nyhan, Timothy A. McCaffrey 2016 George Washington University

Acute Appendicitis: Transcript Profiling Of Blood Identifies Promising Biomarkers And Potential Underlying Processes, Lakhmir S. Chawla, Ian Toma, Danielle L. Davison, Khashayar Vaziri, Juliet Lee, Raymond Lucas, Michael G. Seneff, Aobhinn Nyhan, Timothy A. Mccaffrey

Anesthesiology and Critical Care Medicine Faculty Publications

Background

The diagnosis of acute appendicitis can be surprisingly difficult without computed tomography, which carries significant radiation exposure. Circulating blood cells may carry informative changes in their RNA expression profile that would signal internal infection or inflammation of the appendix.

Methods

Genome-wide expression profiling was applied to whole blood RNA of acute appendicitis patients versus patients with other abdominal disorders, in order to identify biomarkers of appendicitis. From a large cohort of emergency patients, a discovery set of patients with surgically confirmed appendicitis, or abdominal pain from other causes, was identified. RNA from whole blood was profiled by microarrays, and ...


Urethral Solitary Fibrous Tumor: A Rare Pathologic Diagnosis Of A Periurethral Mass, Gaby N. Moawad, Elias Abi Khalil, Cheryl Silverbrook, Stephanie Barak, Alice Semerjian, Michael Phillips 2016 George Washington University

Urethral Solitary Fibrous Tumor: A Rare Pathologic Diagnosis Of A Periurethral Mass, Gaby N. Moawad, Elias Abi Khalil, Cheryl Silverbrook, Stephanie Barak, Alice Semerjian, Michael Phillips

Obstetrics and Gynecology Faculty Publications

Solitary fibrous tumors (SFTs) may occur at any site in the body. SFTs can only be conclusively diagnosed based on histopathologic and immunohistochemical characteristics of the tumor. The presence of SFTs in the abdomen and pelvis is extremely rare. To our knowledge no cases of urethral solitary fibrous tumor in the literature have been reported so far. We present a case of a solitary fibrous tumor arising from the urethra in a twenty-three-year-old female presenting with vaginal mass.


Patient-Specific Inference Of Average Glucose From Glycated Hemoglobin, Roy Malka, David M. Nathan, John M. Higgins 2016 Massachusetts General Hospital

Patient-Specific Inference Of Average Glucose From Glycated Hemoglobin, Roy Malka, David M. Nathan, John M. Higgins

Biology and Medicine Through Mathematics Conference

No abstract provided.


Characterization Of Neutrophils And Macrophages From Ex Vivo Cultured Murine Bone Marrow For Morphologic Maturation And Functional Responses By Imaging Flow Cytometry, Klaudia Szymczak, Margery G.H. Pelletier, Anna M. Barbeau, Kevin O'Fallon, Peter Gaines 2016 University of Massachusetts Lowell

Characterization Of Neutrophils And Macrophages From Ex Vivo Cultured Murine Bone Marrow For Morphologic Maturation And Functional Responses By Imaging Flow Cytometry, Klaudia Szymczak, Margery G.H. Pelletier, Anna M. Barbeau, Kevin O'Fallon, Peter Gaines

UMass Center for Clinical and Translational Science Research Retreat

Neutrophils and macrophages differentiate from common myeloid progenitors in the bone marrow, where they undergo unique nuclear morphologic changes as they mature into fully functional phagocytes. These changes include condensation of chromatin, the most pronounced exhibited by mature neutrophils. Both myeloid cells acquire multiple functions critical to their ability to kill pathogens, including phagocytosis, the production of proteolytic enzymes and reactive oxygen species (ROS), and in the case of neutrophils, release of nuclear material known as nuclear extracellular traps (NETs). Studies on these functions often rely on the use of cells acquired from mature mouse tissues, but these tend to ...


Rapid Diagnostics For Infectious Disease Using Noble Metal Nanoparticles, Chun-Wan Yen, Helena de Puig, Justina Tam, José Gómez-Márquez, Irene Bosch, Lee Gehrke, Kimberly Hamad-Schifferli 2016 Massachusetts Institute of Technology

Rapid Diagnostics For Infectious Disease Using Noble Metal Nanoparticles, Chun-Wan Yen, Helena De Puig, Justina Tam, José Gómez-Márquez, Irene Bosch, Lee Gehrke, Kimberly Hamad-Schifferli

UMass Center for Clinical and Translational Science Research Retreat

Rapid point-of-care (POC) diagnostic devices are needed for field-forward screening of severe acute systemic febrile illnesses such as dengue, Ebola, chikungunya, and others. Multiplexed rapid lateral flow diagnostics have the potential to distinguish among multiple pathogens, thereby facilitating diagnosis and improving patient care. We present a platform for multiplexed pathogen detection which uses gold or silver nanoparticles conjugated to antibodies to sense the presence of biomarkers for different infectious diseases. We exploit the size-dependent optical properties of Ag NPs to construct a multiplexed paperfluidic lateral flow POC sensor. AgNPs of different sizes were conjugated to antibodies that bind to specific ...


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