Achondroplasia Dwarfism Research Paper Example | Topics and Well Written Essays - 750 words

Achondroplasia Dwarfism - Research Paper Example The DNA segments carried on the chromosomes are known as genes that codes for proteins to help build and maintain the cells and pass on the traits or characteristics like eye color, height etc. to future generations. (Louis E. Bartoshesky, Teens Health, April 2009). DNA comprises of four chemicals adenine (A), guanine (G), cytosine (C) and thymine (T) that combine to form proteins that in turn help the body to develop and grow. Diseases that arise due to the change in the genetic material of an individual are known as genetic disorders. Some genetic disorders can be harmless while other can be more serious. These disorders are of four types that can be passed on from ancestors while other may be caused due to environmental or chemical factors (Robin Doak, 2). These genetic disorders are of four types: 1. Single – gene / Mendelian / Monogenic is the mutation or change that occurs in single gene of DNA sequence. Mutation in a single gene stops its normal functioning thus causing disorder. There are more than 5000 types of single gene disorders. There are different types of single gene disorders (Robin L. Bennett, 23): Autosomal dominant where only one abnormal from one parent is enough to cause the disorder. Autosomal recessive where two mutated genes are required to cause the disorder. X-linked dominant and recessive caused by mutation of X chromosomes. Y-linked caused by mutation of Y chromosome... Dwarfism is a skeletal deformity usually inherited resulting in short stature of adults that is caused due to genetic or medical disorders where the average height of an adult is 4 feet 10 inches (William A. Petit, Christine A. Adamec, 69). There are almost 200 different types of dwarfism that are categorized into two forms: Proportionate form of dwarfism has overall small structure. Primordial dwarfism, Seckel syndrome etc. Disproportionate form of dwarfism has one or more body parts large or small than average size adult. Achondroplasia also known as ACH, Chondrodystrophia fetalis, Chondrodystrophy syndrome, Congenital osteosclerosis, Dwarf achondroplastic or Osteosclerosis congenital is the most common disproportionate form of dwarfism where converting the cartilage into bone (ossification) is affected. It comprises of almost 50 percent of all cases of dwarfism. It is a hereditary autosomal dominant disorder affecting the cartilage and bone growth (Joseph Anthony Joyce). There are 1 in 15,000 to 25,000 birth chances to be affected with this disorder worldwide. Dr. Johm Wasmuth along with his group of scientists found in 1994 that mutation of fibroblast growth factor receptor -3 (FGFR3) genes of human chromosome 4 cause achondroplasia (Who discovered it Website). The signs and symptoms of achondroplasia are: Large head with prominent forehead and Arms and legs are shorter compared to the trunk. Space between ring and middle fingers with abnormal appearance. Lesser elbow movement Bowing legs (genu varum) Muscle tone decrease Achondroplasia can be detected by prenatal ultrasound showing excessive amniotic fluid along with a DNA test to detect homozygosity (two copies of mutated genes are inherited which is fatal). Common medical

Professional Ethics Essay Example | Topics and Well Written Essays - 1250 words - 1

Professional Ethics - Essay Example However, as important as ethics are for any and all professions, the need and importance for ethics within the IT profession is arguably even more profound. As such, the following analysis will seek to engage the reader with an understanding of the way in which ethics is of such a vast importance within the IT profession and is so central to practice of good business behavior. Furthermore, the analysis will also draw upon some of the questions of value and how they are different from questions of fact. Lastly, examples of the IT profession in addressing issues of ethics will be utilized as a means of drawing further prints upon the situation and moral needs that might be illustrated. According to the ACM, the code of ethics for IT professionals includes nearly 24 points; among these contributing to human well-being, avoiding harm to others, honoring property rights and copyrights, respecting privacy, honoring confidentiality, and seeking to improve public understanding of computing and its consequences. Whereas this is by no means an exhaustive list of all of the determinants that the ACM seeks to put forward, it does provide a running commentary on some of the aspects that the ACM code of conduct understands as central to the application of ethical and morally responsible IT work. Arguably, one of the most distinctive facets of ethics, or even of ethical considerations, within the IT profession is concentric upon the overall amount of data and responsibilities that the IT professional has at his or her disposal (ACM, 2014). As a direct function of the way in which IT work is performed, it individual working within this particular career path will necessarily ha ve access to a broad variety of different personal, sensitive, and public information. Likewise, although it is somewhat dangerous to state that the ethical considerations for one particular career path are higher than another, it is fair to state that the overall level of responsibility that an IT