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Articles 1 - 7 of 7
Full-Text Articles in Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Development And Implementation Of An Evidence Based Practice Guideline Related To The Management Of Adult Angioedema, Megan Przybysz
Development And Implementation Of An Evidence Based Practice Guideline Related To The Management Of Adult Angioedema, Megan Przybysz
Doctor of Nursing Practice Scholarly Projects
Angioedema (AE) is a potentially life-threatening medical condition that occurs with a higher frequency than medical providers may expect, with the emergency department (ED) serving as the usual first point of medical contact for patients. Any hesitation in recognizing AE or inconsideration of the disease process in differential diagnoses may lead to a dangerous delay of care. Due to the potential rapid progression of airway obstruction in AE, inexperienced providers should not attempt intubation, instead deferring to providers experienced in alternative airway techniques (i.e., anesthesia providers). The primary goal of this project is to develop an evidencebased practice guideline for …
Schizophrenia And Genomics, Tiffini Lasch
Schizophrenia And Genomics, Tiffini Lasch
Nursing Student Class Projects (Formerly MSN)
There are several advancements in genomics under specific categories, such as cancer and autism. Mental health is one of the leading diseases to cause a significant debt burden in today's society. However, genomics has not translated well into mental health treatment. One area of focus is schizophrenia. Those with schizophrenia suffer from severe and devastating symptoms. The symptoms can lead to harsh complications. Which can make it impossible to function in everyday life. Many believe it is not just genetics alone, but also environmental factors that contribute to schizophrenia. Through large genome-wide associated studies, discoveries are being made. There have …
Marfan Syndrome In Athletes, Chelsey Hastings
Marfan Syndrome In Athletes, Chelsey Hastings
Nursing Student Class Projects (Formerly MSN)
Genetic disorders are widely misunderstood in our society and can lead to early mortality. Marfan syndrome (MFS) is a genetic disorder that affects connective tissue (Harris, Croce, & Tian, 2014). Antoine Marfan, a French pediatrician, first described this disease in 1896 (Elshershari & Harris, 2014). MFS can manifest in several different organ systems. The cardiovascular complications of aortic dilation and dissection often account for the morbidity associated with this disease (Harris et al., 2014). Understanding the inheritance, pathophysiology, and treatment of MFS is important for the advanced practice nurse (APN). Prevalence of the disease is approximately two per 10,000 individuals, …
Malignant Hyperthermia, Hailey Jones
Malignant Hyperthermia, Hailey Jones
Nursing Student Class Projects (Formerly MSN)
According to the Malignant Hyperthermia Association of the United States (2015), “Malignant hyperthermia (MH) is a potentially fatal, inherited disorder usually associated with the administration of certain general anesthetics and/or the drug succinylcholine.” Malignant hyperthermia has been presented to me during hospital skills days over the past year due to the increased need for knowledge regarding this topic. I choose this topic because I find it interesting due to the fact that I could encounter this in the remainder of my days in the intensive care unit, but most importantly because I will be dealing with these drugs on a …
Nonimmune Hydrops Fetalis, Heather Walker
Nonimmune Hydrops Fetalis, Heather Walker
Nursing Student Class Projects (Formerly MSN)
Hydrops fetalis is an excessive accumulation of fluid within the fetal extravascular compartments and body cavities generally characterized by: •placental enlargement •ascites •pericardial effusions •pleural effusions (Bellini, 2014, p. 1082). Nonimmune hydrops fetalis (NIHF) develops as a result of one or more nonimmune factors, distinguishing it from immune hydrops fetalis that results from a maternal antigen-body fetal antigen-mediated red blood cell hemolysis (Randenberg, 2010, p. 281).
Understanding Hereditary Hemochromatosis, Kari Davidson
Understanding Hereditary Hemochromatosis, Kari Davidson
Nursing Student Class Projects (Formerly MSN)
One of the most common genetic diseases, hereditary hemochromatosis is a disruption of iron regulation in the body. Its geographic distribution is worldwide, but it is most common in those of northern European origin. (Roach and Di Palma, 2012). Occurrence is rare in other racial or ethnic groups. (Emanuele, Tuason, & Edwards, 2014). Symptoms are due to significant iron overload, normally as a result of HFE gene mutation. (Centers for Disease Control and Prevention, 2010). The HFE gene plays an important role in regulating iron absorption in the GI tract, transport, and storage. (Emanuele, et al., 2014). If excess iron …
Malignant Hyperthermia, Eric Weberding
Malignant Hyperthermia, Eric Weberding
Nursing Student Class Projects (Formerly MSN)
Malignant hyperthermia (MH) is an autosomal-dominant disorder that is inherited. The disturbance of calcium homeostasis associated with MH affects skeletal muscle (Schneiderbanger, Johannsen, Roewer, & Schuster, 2014). This hypermetabolic muscular disorder is triggered by exposure to depolarizing muscle relaxants such as succinylcholine or inhaled halogenated volatile anesthetics such as sevoflurane, halothane, desflurane, enflurane, and isoflurane (Stratman, Flynn, & Hatton, 2009). In susceptible individuals, this potentially lethal syndrome may cause hyperthermia, hypercapnia, muscular rigidity, hypoxemia, acidosis, tachycardia, and hyperkalemia (Schneiderbanger et al., 2014).