The disorder is caused by a mutation in the ACADM gene. The ACADM gene codes for the primary enzyme that metabolizes medium chain fatty acids. The mutation causes a deficiency of the primary enzyme, Medium-chain acyl CoA dehydrogenase (MCAD), which is responsible for metabolizing fats into energy.
The baby should not go a long time without feeding because the glycogen stores, which are stored sugars, are diminishing quickly. Therefore, the baby needs a constant input of food (glucose) to replenish the glycogen stores and to provide the baby with energy. If the baby does not feed for a long time, the glycogen stores will deplete. The baby’s body will resort to its next method of producing energy called gluconeogenesis. In simpler terms, gluconeogenesis
If I were to look at my family through the lenses of Bowen’s family system theory mentioned in The Genogram Journey: Reconnecting with your Family by Monica McGoldrick, most of the time we would not follow the listed “norms.” Mike is the oldest and Bowen suggests that he should be serious, the leader, and ambitious. Mike is none of these attributes. Mike is the smartest of the siblings. On the science portion of the ACT, he made a 32. The quality Mike is missing tends to fall towards self-motivation. He has worked in multiple fast food careers but ends up quitting when the job gets difficult. His mother, Christine, tends to bend to his every need while our father does not talk to him about adult responsibilities.
Epigenetics is the word that is used for genes that are modified in order to assist certain genome sequences that lead to diseases and disorders. Epigenetics has come a long way since the first genome sequence had its draft breakthrough in the year 2000 (NOVA 2012). From depression to cancer, epigenetics has made its way through to provide families with the appropriate knowledge and perhaps medication in order to avoid these diseases and disorders in the future.
ACH, is an interesting disease, one that after many years of research still remains a partial mystery. The fact that a single nucleotide on one chromosome can so greatly affect an individual is astounding, especially coupled with the fact that this mutation is so homogenious in genotype and phenotype. With more skeletal dysplasias being connected to FGFR3, research has increased to fully determine and define the pathways involved with this gene. Determining the reason for such a high mutation frequency and the link to paternal age are also being looked into. Once there is more understanding of how this mutation affects the body, treatments and possibly cures can be found for these individuals.
Triglycerides are a main source of energy for humans, which are storage molecules composed of fatty acids that may undergo fatty acid beta-oxidation when in need of energy (D. R. de Assis et al, 2003). Medium-chain acyl-CoA dehydrogenase deficiency (MCAD deficiency) is the most commonly diagnosed mitochondrial fatty acid β-oxidation disorder that prevents fatty acid conversion to energy (Rinaldo et al., 2002). MCAD deficiency is caused by mutations in the gene coding for the MCAD enzyme, and the disorder occurs in 1 of every 17,000 people, with the highest frequency in Northern European populations (Kompare & Rizzo, 2008; Rinaldo et al., 2002). Individuals are often diagnosed using genetic and molecular testing by looking at DNA, as well as the contents of urine samples (Matern & Rinaldo, 2012 ). Newborn screening may help identify affected individuals before the onset of symptoms and take preventative measures against this disorder (Kompare & Rizzo, 2008).
John Philippe Rushton was a Psychology professor at the University of Western Ontario who became generally known for his research on apparent forms of racial variation. Rushton’s book, Race, Evolution, and Behavior (1995), describes his r/k selection theory on how Mongoloids, Negroids, and Caucasoids obtain their evolutionary characteristics. Many critiques and reviews targeted Rushton for his controversial work; including articles from the Behavioral and Brain Sciences (1989). During his early career, Rushton began researching hereditary aspects of altruism; thereby, developing the Genetic Similarity Theory. “Altruism defined as behavior carried out to benefit others, in extreme form altruism involves self-sacrifice. In humans altruistic behavior ranges from everyday kindnesses, through sharing scarce resources, to giving up one's life to save others (Rushton 1989).” This theory was a direct extension of William Donald Hamilton’s Kin Selection Theory. Throughout Rushton’s literature there is a constant pattern of faulty conclusions, citations from his own work, sources that have been outdated, undeterminable measurements, and broad, vague assumptions. The consistency of these complications affected his reputation severely. Rushton appeared to void out any socio-economic factors that could influence his generalizations. Analyzing his Genetic Similarity Theory and evaluating all credible sources, one will find many errors and misconceptions.
The rapid physical growth of an infant which we talked about earlier is fueled by the nutrients that the infant receives. Without the proper nutrition,infants cannot reach their physical, and cognitive potential. It is important to breast feed your baby until they turn one, but if that’s not an option bottle feeding is widely accepted as
Interview & Reflection I have interviewed my Father through email over a week period, he was very helpful to me and even knew the answers to the questions I had on my Mother side of the family. I felt he was the best to interview as he is one of the smartest people I know. Of course I talked to him in our native language (Arabic) even though his English was perfect, but I wanted him to feel more comfortable when answering, so I translated everything to English. Below is a list of the questions I asked him and his replies: (Answers are bolded). The first question I have is, why is it that I feel that our family is much bigger than the regular western family?
“Achondroplasia is a disorder of bone growth. It is the most common form of disproportionate short stature. It occurs in one in every 15,000 to one in 40,000 live births. Achondroplasia is caused by a gene alteration (mutation) in the FGFR3 gene. The FGFR3 gene makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone. FGFR3 is the only gene known to be associated with achondroplasia. All people who have only a single copy of the normal FGFR3 gene and a single copy of the FGFR3 gene mutation have achondroplasia.” (genome.gov)
Failure to thrive (FTT) in children and infants, results from inadequate nutrition to maintain the growth and development. In many cases, FTT is either the result of possible medical issues that the mother or child may be experiencing. It However, in the extreme form, it could become fatal and many times this is the result of a caregiver or parent. In the paper, we will look at the causes, interventions and the impact that FTT may have on families (Shelov and Altmann, 2009, p.614).
America has been introducing foreign genes into cows, mice, sheep, and pigs for years; there is no reason that it cannot be done in humans as well (“Creating Designer Children”). Imagine parents picking their child out of a catalog instead of using God’s creation. (“Creating Designer Children”). Every child is born with the genes that are carried down the gene line of their family not by the parents picking how they want their child to be born. Genetic mutation is basically a future of designer children. Genetic mutation can cure the children of all diseases and traits that the parents do not want their child or children to have (“Creating Designer Children”). Around 1,000 to 4,000 children born in the United States will develop a disease before or around the age of 10 (“Creating Designer Children”). The question is, “will the child be born healthy or have problems later in life”? How far will parents and doctors go to engineer humans (“Creating Designer Children”)?
Reviewing and creating my genogram was an interesting insight on what my family tree looks like to others and myself. Then creating an ecomap was also very stimulating due to the environment I choose to stay in and what I expose myself to. What really made me realize that my family gene pool has a lot of major diseases, for example myself having breast cancer and surviving the battle? Now I look at life different, I try to not stress, about stuff that I don’t have control of and to be positive and grateful for each day. By making a promise to myself that I would return back to school and earn a degree in something I can give back to society. So I chose to go into Social Work.
In this genogram reflection, I discuss the ongoing issue of trust between my parents and me. In distinguishing between my parent's view and my own, my purpose is to highlight my experiences of the family issue. I will explore how my family trust issues impact my personal and professional life. The reflection is structured as follows. After providing a contextual summary of my experience, I will examine how trust issues facilitate and impede my clinical work. Trusting my parents is one of my most difficult struggles in life. I do not trust my parents because of past abuse, manipulation, and disregard for my feelings. I have only revealed my mother's illness to three people in my life. In the interest of providing adequate family context, I will reveal my mother's borderline personality
The infant passes through different phases before realizing that food will fulfil its nutritional requirements. The initial phase includes food exploration with the main source of nutrition still being obtained from milk. The idea behind the BLW is to allow exploration and self-feeding and does not focus on the amount eaten as the infant is allowed to progress at its unique pace. This approach allows the infant to be in control of its own appetite (Rapley & Murkett, 2008).
INTRODUCTION: My project question is: has human development disabled the power of genetic mutations and natural selection or enhanced it? My aim is to understand the importance of natural selection and the impact that human development has had on it. According to The Concise Oxford Dictionary(p 334), human development is defined as the process of enlarging people’s freedom and opportunities and overall well being through various resources. I will research the effect that the progression of humans, in terms of their development, has had on the abnormalities that have come to occur.
...apter 362. Glycogen Storage Diseases and Other Inherited Disorders of Carbohydrate Metabolism. In D.L. Longo, A.S. Fauci, D.L. Kasper, S.L. Hauser, J.L. Jameson, J. Loscalzo (Eds), Harrison's Principles of Internal Medicine, 18e. Retrieved January 21, 2012 from http://www.accessmedicine.com/content.aspx?aID=9144477.