...A gene mutation is a permanent change in the DNA that makes up a gene. The changes in a gene are called mutations. Mutations can range in size they can affect a single DNA building block to a big part of a chromosome that includes many genes. Serious disorders like Sickle- cell anemia, Spinal muscular atrophy, Turner syndrome, and Progeria are caused by a mutation in a single gene. Sickle- Cell Anemia is a disorder that affects the hemoglobin, a molecule in the red blood cells that delivers oxygen to the cells. The signs and symptoms of sickle cell disease happens in a child's early childhood. Some of the features of the disorder are having a low number of red blood cells, repeated infections, and occurring episodes of pain. The symptoms...
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...The field of medical genetics has changed from the earlier days in that various diagnoses can be made during the first trimester of pregnancy. In the case Sarah Kennedy’s diagnoses of spinal muscular atrophy (SMA), the diagnose could only have been made during the child’s infancy period as the child started to show signs such as not eating, rapid weight loss and what doctors characterized as floppiness (Marion, 2010,p.83-100). After the Kennedys’ have lost Sarah to SMA, they learned that each of their child would have a 25% chance of having SMA if conceived however four years after the loss of Sarah, the Kennedy surprisingly had conceived a boy (p.88-89). Filled of fear, they seek out Dr. Robert Marion who gives them good news that research in genetics has amplified over the four year period in which Sarah has been deceased especially in SMA (p.83-90). He then goes on to explain that the root of disease has also been identified however that the reason behind why the genes are altered the way they are have not been discovered and the most he could do for them was to take a sample of Sarah’s DNA and make an comparative analysis with the fetus’s cell (p.90-91)....
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...The aging Musculoskeletal System LaToya Johnson ITT-Orland GE 258 April 28, 2015  Osteoporosis Osteoporosis is a bone condition that makes bones thinner and more fragile because of reduced bone density, and it puts people at risk of fractures, especially of the hip, spinal vertebrae and wrist. Bones in the spine are not broken they are compressed together, and leads up to kyphosis. Kyphosis is a deformity of the spine which is a curve shape to the upper spine. There are different causes/ risk factors that leads up to osteoporosis such as reduced sex hormones, particularly in women due to less estrogen after menopause, eating disorders, tobacco smoking, excessive alcohol intake, decrease calcium and vitamin D, inactivity or immobility. Both men and women are affected. Osteoporosis can have a profound impact on daily living, fractures can occur with little trauma. Which make ADLs harder to do and eventually need assistance. Osteoarthritis Osteoarthritis is the most common form of arthritis, when the cartilage of the bone wears down over time it commonly effect the joints of the hand, knees, hips and spine. People in the occupation with repetitive and stressful movement should find ways to reduce the trauma. . Causes / risk factors that increases or could lead up osteoarthritis is age, sex women is at more risk, obesity, joint injuries, bone deformities, certain jobs genetics. ( web MD). There is no cure that exists at this time however you could slow the...
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...revealed to bring harm to neurons, or nerve cells, that function to monitor voluntary muscle movement. ALS is one of many diseases that belong to a group called motor neuron diseases. The disorders within this group are known to cause steady deterioration of the body’s nerve cells. When understanding the extent of ALS, one must consider the function of motor neurons. These nerve cells hold residence within the brain, brainstem, and spinal cord. This specific portion is meant to monitor components of the body, while serving as the communication center between the nervous system and voluntary muscles within...
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...Which problem is often associated with a myelomeningocele? 5. What is the most common problem of a child born with a myelomeningocele? 6. What is a recommendation to prevent neural tube defect? 7. How much folic acid is recommended for women of childbearing age? 8. What position do you place a neonate in to feed that has had a myelomeningocele repair? 9. What advice about the diet would you give a parent who has a child with a latex allergy? 10. What are appropriate nursing interventions for a child with latex allergies? 11. What are the clinical manifestations of a child with spinal muscular atrophy (Werdnig-Hoffman disease)? 12. What is the management plan for a child diagnosed with pseudohypertrophic (Duchenne) muscular dystrophy? 13. Therapeutic management of a child with tetanus includes the administration of what medication(s)? 14. Select all that apply: care of a child after a spinal cord injury would include what nursing interventions? 15. How does immobilization affect the metabolism? Increase or decrease the metabolism? 16. How does immobilization affect the cardiovascular system? It causes…. 17. What can result from the bone demineralization associated with immobility? 18. What would you do for a child who has injured there ankle at school? You are the school nurse and you have called the parent already. 19. What is a simple fracture? 20. What is the advantage of using a fiberglass cast instead of a plaster cast? 21. What instructions do you give a parent...
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...scientists are close to making it possible to where parents can design their own “perfect” child. It means that they will be able to pick out their child’s hair color, personality traits, and even if they want them to be athletic or not. According to, (www.infertility.com), out of 1000 surveyed, 40% of people said they would pick the traits of their child. Only 9% seen something wrong with the idea of designer babies. I am going to tell you about what exactly is a designer baby, the pros, and the cons of having a designer baby.. The positives: Take the case of Cindy and John Whitley. Their first child died at the age of 9 months from a deadly genetic disorder called spinal muscular atrophy. Genetic analysis uncovered that the Whitley’s statistically had a 1 in 4 chance of creating a child with spinal muscular atrophy each time they conceived. Unwilling to risk having another child with the deadly disorder, the Whitley’s used PGD to conceive three children, all healthy. To start off with, designer babies aren’t easy to develop it takes a lot of knowledge. According to research done by scientist Keith Kleiner, “…Pre-implantation Genetic Diagnosis is used with in vitro fertilization to look at embryos for over 100 diseases before it is in the mother.” After seeing what embryos have diseases they then destroy them. Scientist use in vitro fertilization to fertilize the eggs with the sperm. It allows doctors to reduce that the child is born with a less of a chance with a disorder...
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...The nervous system is made up of the cerebrum and spinal cord, which is the cylindrical bundle of nerve fibers, and associated tissue that is enclosed in the spine, and also the sensory organ, all of these organs are having control over the whole body The nervous system is comprised of the cerebrum, the spinal cord, which is the cylindrical bundle of nerve fibers, and associated tissue that is enclosed in the spine, and also the sensory organ, all of these organs are having control over the body and correspondence among its parts The (PNS) the peripheral nervous system . it carries this information to the CNS. The (CNS) central nervous system takes information coming from the PNS, processes this information to generate behavior, and then communicates...
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...ignored my concern. The gut feeling I had would not go away. Over the next couple weeks Lane had lost movement in his lower extremities and he still had not rolled over. I knew he wasn't just fat and Lazy like people kept telling me, there was something wrong. An appointment with a new pediatrician confirmed my Instincts were correct”. The family was sent to CAMC for further testing of lanes Blood work, that was normal, but he had a few diminished reflexes that sent the Doctors into another direction. Alexis stated, “They would do a blood test and we would wait six long agonizing weeks to learn Lane would have the #1 neuromuscular disease that ends infant’s lives before they turn 2 years old. Lane was diagnosed with Spinal Muscular Atrophy Type one”. Spinal Muscular Atrophy, SMA, A neuromuscular disease that affects the voluntary muscles robbing children the ability to be able to walk, crawl, eat, set up and sometimes even smile. There is currently no cure and Lane was given a life sentence. The doctors told the parents to "Take him home and love him, he will not make it to his first birthday". Words that Alexis and the family could never forget, She expressed, “Those words rang in my heart and soul. How could my baby be taken away? That was not the plan? This isn't right. Our worlds were turned upside down. But I would not give up. We would fight”. Lane started therapy immediately and the parents and family started researching his diagnosis. Along with therapy Lane has multiple machines...
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...Clinical subjective, objective signs and symptoms of Amyotrophic Lateral Sclerosis are: difficulty walking or tripping; weakness in the leg, feet, or ankle; hand weakness or clumsiness; slurring of speech; muscle cramps or spasticity in the arms, shoulders, and tongue; difficulty holding the head up or keeping a good posture. This ailment usually begins in the hands, feet, or limbs, and then spreads to the rest of the body; as the disease advances, the muscles become weaker. Correspondingly, physicians typically diagnosis ALS based primarily on the symptoms and signs they observe in the patient along with a series of tests to rule out other possible explanations. Physicians will obtain the individual’s full medical history and generally conduct...
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...The topic I picked is epigenetics and more specifically Induced Pluripotent stem cells (IPSCs). IPSCs are artificially derived typically adult somatic cells. IPSCs have become important in research due to them being a better option than embryo derived stem cells. Epigenetics means above the gene. Epigenetics is the study of changes in the way the genes are expressed by a mechanism other than by changing the nucleotide sequence. In epigenetics can activate genes that aren’t expressed while not changing the DNA sequence. Epigenetics is a relatively new area of research that has been evolving rapidly. Controversy that surrounds epigenetic research is due to stem cells being apart of the equation. When stem cells are thought of in the general public, people tend to think of embryonic stem cells (ESCs) and all the practical and ethical issues. IPSCs are very similar in that regard to ESCs. Since ESCs had so many ethical issues attached to them it made it impossible to use ESCs in a clinical setting. Epigenetics its self is controversial due to the changing of the genome and having certain genes being activated. Some think that the changing of the genome is highly unethical. Studies have been done though to prove that epigenetics can be changed by what a mother eats during development of the new born. All that was done in this study was that they changed what the mother mouse would eat and when the baby mouse came out they were genetically different from each other due to what each...
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...Danny Edwards De Castro V. Vastola, 877 A.2d 372, 379 N.J. Super. 277 (2004) Facts: On March 18, 2004 plaintiffs, Carol Kilarjian and Dave de Castro and defendants John and Joan Vastola entered into a contract to sell the Vastola’s house on June 15, 2004. On June 14th the defendants’ real estate attorney wrote plaintiff’s real estate attorney notifying them that they will not convey the title. The reasoning for breaching the contract is that Joan Vastola has spinal muscular atrophy that has gotten considerably worse between the times the contract was entered to the time of closing of the contract. This disease has made it impossible for Joan to live independently and is now confined to either a wheelchair or her bed. Because of this the defendants no longer find it possible to move to Virginia as they had wished. The plaintiffs argue that specific judgment should be awarded since a valid real estate contract exists. They also argue that since the defendants have delayed their performance under the contract the plaintiffs should be awarded monetary damages resulting from attorney’s fees and higher financing costs for the delay in obtaining a second mortgage commitment. The defendants argue that mortgage rates are still favorable and that their finances are tight and should not be held responsible for an increase in mortgage rates that have not actually risen. Issue: Should specific performance be granted to complete the contract and force the defendants out of their house even...
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...need in bioinformatics. Organisms that are used in biological experiments in laboratories are called ‘model organisms’, of which most genomes are sequenced at present (rat, yeast, Arabidopsis; plant model organism) These sequenced genomes could be analyzed using bioinformatics tools in order to identify genes of significance as in drought tolerance genes in plants etc. Information revealed from sequencing could be studied using bioinformatics tools to understand its underlying mechanisms and to generate models that could be used in further studies. This information could also be used in evolutionary studies, micro array analysis, identification of genetic disorders (Alzheimer’s disease, breast cancer, cystic fibrosis, spinal muscular atrophy etc.) Discoveries have revealed that despite of the universality of the central dogma the regulation mechanisms in cells tend to create variations in the results of the same genetic material. This denotes the fact that DNA is not the only source of information that is to be used in analyzing genomes, and leads to the study of RNA and protein information. E.g.: Some genes expressed in roots are...
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...Jerika Bolen passed away on Thursday. The 14-year-old garnered national support after she made the difficult decision to end treatment for the painful and devastating disease Spinal Muscular Atrophy. Her decision sparked a national debate about right-to-die issues. Jerika stopped treatment and entered Sharon S. Richardson Hospice care where her lifelong fight came to an end. Her disease racked her young body with constant pain, reports USA Today. Jerika was never able to walk and could only move her hands and head. Jerika’s last wish was to attend a prom. So in July she and her mother, Jen, planned a special prom, which gathered an outpouring of support from across the nation, reports FOX 6. Letting Jerika go was the most difficult situation for her mother, but Jen told local media that she loved her daughter and she could not just watch her continue to suffer as she was, reports PIX 11. She says that her daughter made peace with the fact that she was going to die. Jerika understood that continuing life meant greater pain in the future....
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...Given that the patient shows signs of loss of control of limbs and slight speech impediment, she could be suffering from a neuro-muscular disease. There are several neuromuscular diseases such as: Huntington’s disease, Parkinson’s disease or Lou Gehrig’s Disease. To start off, since the patient experiences weakness in the limbs, she could be suffering from a type of muscular dystrophy (MD). There are many kinds of MDs, all of which cause weakness by the degeneration of muscular tissue in the body. Looking at the patient’s age and that she feels weakness in the distal muscles, it can also be hypothesized that she could be suffering from a form of distal myopathy. Most distal myopathies occur at a later stage in life and atrophy happens...
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...SPHE314 WK 4 MIDTERM QUIZ Click Link Below To Buy: http://hwaid.com/shop/sphe314-wk-4-midterm-quiz/ Part 1 of 1 - 94.8/ 94.799 Points Question 1 of 37 2.6/ 2.6 Points The multiple functions of the muscular system are performed by ______________type(s) of muscle: A.2 B.3 C.4 D.1 Question 2 of 37 2.6/ 2.6 Points Which of the following is NOT considered a fuel nutrient? A.carbohydrate B.fat C.water D.protein Question 3 of 37 2.6/ 2.6 Points The layer of connective tissue surrounding the outside of the muscle is called: A.perimysium B.carbohydrate C.sarcomysium D.epimysium Question 4 of 37 2.6/ 2.6 Points Protein can supply about 5 to 10% of the total energy needs during: A.sprinting activities B.prolonged exercise C.all types of exercise D.weightlifting Question 5 of 37 2.6/ 2.6 Points The two main components of the nervous system are: A.the autonomic nervous system and the somatic nervous system B.the brain and the spinal cord C.the central nervous system and the peripheral nervous system D.the efferent and afferent divisions of the nervous system Question 6 of 37 2.6/ 2.6 Points The autonomic nervous system can be divided into two functional and anatomical divisions called: A.sympathetic and unsympathetic B.sympathetic and parasympathetic C.afferent and efferent D.CNS and peripheral Question 7 of 37 2.6/ 2.6 Points Using an insulated, airtight chamber with walls...
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