Genetic Structures Commons^™

Graves' Disease And Major Histocompatibility Complex Class Ii: A Meta-Analysis Of Hla-Dq And Hla-Drb1, Dylan Thibaut, Connor Sweeney, Shannon South, Mohamed Hussein

Advances in Clinical Medical Research and Healthcare Delivery

Background: Human leukocyte antigen (HLA) class II has shown potential in determining prognosis, understanding medication reactions, and predicting onset of Graves’ disease. The aim of this study is to further investigate the association between Graves’ disease and HLA class II, specifically HLA-DQ and HLA-DR, via meta-analysis to find HLAs that can be further examined for prognostic reasons.

Methods: Statistical analysis was performed to determine if variants of HLA-DQA1, HLA-DQB1, or HLA-DRB1 were associated with significantly altered odds of Graves’ disease. A minimum of three studies pertaining to a particular HLA was required for inclusion. Studies were excluded if …

Review On Molecular Genetic Basis Of Hypertrophic Cardiomyopathy, Derek Pok Him Lee

Journal of the Hong Kong College of Cardiology

Hypertrophic cardiomyopathy (HCM) is one of the most common types of inherited cardiomyopathy with a wide range of clinical manifestations ranging from subtle myocardial hypertrophy to debilitating heart failure, cardiac arrhythmias, and sudden cardiac death. We reviewed the literature on the latest knowledge regarding the pathophysiology and molecular genetic basis of HCM. This will include laboratory studies on animal models and human pluripotent stem-cell derived cardiomyocytes and the theory of proximal mechanisms involving calcium handling and energy expenditure underlying HCM. The current review will also illustrate the pathogenicity of various associated genetic variants, genotype-phenotype correlation and the optimal approach to …

The Onset Of Exercise-Associated Hyponatremia And Individual Differences In Inappropriate Arginine Vasopressin Excretion: A Review Of Proposed Mechanisms, Michelle Stehman, Stephen A. Maris

Topics in Exercise Science and Kinesiology

Topics in Exercise Science and Kinesiology Volume 2: Issue 1, Article 10, 2021. Exercise-associated hyponatremia (EAH) has been reported to develop during endurance events such as triathlons and marathons. As these events become more popular, the incidence of developing EAH also increases. The development of EAH is commonly associated with the overconsumption of hypotonic fluids such as water and tends to be more prevalent in females. There is also evidence to suggest the inappropriate secretion of arginine vasopressin (AVP) leading to water retention may predispose an individual for developing EAH, especially when coupled with the overconsumption of fluids. Recent research …

Mayer Rokitansky Kuster Hauser Syndrome: A Case Of Mullerian Agenesis, Anu Baby, Simi Kurian, Rani Jose

Manipal Journal of Nursing and Health Sciences

Developmental anomalies of the Mullerian duct are one of the fascinating congenital disorders encountered in which Mayer Rokitansky Kuster Hauser syndrome (MRKH) is one of the wide variety of malformations. The most common presentation in MRKH syndrome is primary amenorrhea with normal development of secondary sexual characteristics and normal female karyotype (46, XX). The ovaries and fallopian tubes are usually functional, but the uterus and upper two-third vagina are either underdeveloped or absent. MRKH syndrome can either be an isolated utero-vaginal aplasia (Type I) or associated with extragenital anomalies (Type II). A case of Type I MRKH syndrome is reported …

Silencing Innovation: The Patent Eligibility Of Sirna Therapeutics, Alexander M. Walker

Minnesota Journal of Law, Science & Technology

No abstract provided.

A Myriad Of Reasons: Incentives For Innovation In Genetic Research And Diagnostics Post-Myriad, Zachary King

North Carolina Central University Science & Intellectual Property Law Review

No abstract provided.

An Overview Of Leber’S Hereditary Optic Neuropathy, Matthew R. Dalton

The Kabod

Typically affecting males ranging from 20 to 24 years of age, Leber’s Hereditary Optic Neuropathy (LHON) is a disorder that is characterized by an acute loss of central vision. Although a heritable disease, LHON does not follow the patterns of classical Mendelian genetics. In fact, one of the most striking characteristics of LHON is that the disease is virtually always inherited maternally. Unlike most genetic disorders that result from a mutation in genomic DNA, LHON is caused by a mutation in the genetic information of mitochondria (mtDNA). Currently there is no treatment for LHON. Despite this, pharmaceutical interventions and contemporary …

Genetic Monitoring In The Workplace: A Tool Not A Solution, Lillian Trettin, Catherine Musham, Richard Jablonski

RISK: Health, Safety & Environment (1990-2002)

The authors differentiate between genetic monitoring and screening, and discuss the potential risks and benefits of predictive testing technologies.

Social Issues Of Genome Innovation And Intellectual Property, Elaine Alma Draper

RISK: Health, Safety & Environment (1990-2002)

Dr. Draper's focus is the use of personal information derived from genome research. She identifies several potential problems, including access to and control of genetic information, employment discrimination and social stratification. She also recommends possible solutions.

Review Of: The Genetic Frontier: Ethics, Law, And Policy (Mark S. Frankel & Albert Teich Eds., American Association For The Advancement Of Science 1994), Suzanne A. Sprunger

RISK: Health, Safety & Environment (1990-2002)

Review of: The Genetic Frontier: Ethics, Law, and Policy (Mark S. Frankel & Albert Teich eds., American Association for the Advancement of Science 1994). Acknowledgments, appendix, contributors, figures, index, introduction, notes, references, tables. LC 93-37230, ISBN 0-87168-526-4. [260 pp. Paper $22.95. 1333 H St., NW, Washington DC 20005.]

Maximizing The Return From Genome Research: Introduction, Thomas G. Field Jr.

RISK: Health, Safety & Environment (1990-2002)

Professor Field introduces and explains the origins of the symposium.

Overview Of Federal Technology Transfer, Lawrence Rudolph

RISK: Health, Safety & Environment (1990-2002)

Mr. Rudolph reviews approximately thirteen years of legal and political developments that have contributed to laws governing the extent to which private firms may secure rights in technology at least partly developed with federal funds.

Technology Transfer: A View From The Trenches, Harvey Drucker

RISK: Health, Safety & Environment (1990-2002)

Dr. Drucker, who has lab-wide responsibility for technology transfer at Argonne National Laboratory, argues that transferring rights in discoveries made through tax supported research to private entities can contribute to public welfare in many ways.

Origins Of The Human Genome Project, Robert Mullan Cook-Deegan

RISK: Health, Safety & Environment (1990-2002)

Dr. Cook-Deegan recounts some of the scientific and political history leading to controversy about the proper mix of private and public roles in pursuing genome research and bringing its fruits to bear, e.g., in preventing and curing disease.

Overview Of Potential Intellectual Property Protection For Biotechnology, Kate H. Murashige

RISK: Health, Safety & Environment (1990-2002)

Dr. Murashige compares the function and value of copyright, patent and trade secret laws in recovering investments in developing genome-related biotechnology.

Book Review, Bradley J. Olson

RISK: Health, Safety & Environment (1990-2002)

Review of the following: THE CODE OF CODES: SCIENTIFIC AND SOCIAL ISSUES IN THE HUMAN GENOME PROJECT. (Daniel J. Kevles & Leroy Hood, eds., Harvard University Press 1992) [397 pp.] Contributors, figures, index, notes, preface, selected bibliography, tables. LC 91-38477, ISBN 0- 674-13645-4. [Cloth $29.95. 79 Garden Street, Cambridge MA 02138.]