PART1 – PHE4200 – Addressing the Risk project– 2pgs

PART1 – PHE4200 – Addressing the Risk project– 2pgs

Social Determinants of Health

Write an annotated bibliography related to potential interventions to address the risk and protective factors that lead you to your chosen health topic or concern. (Infant mortality)

On the basis of your research, create a 2page report containing an annotated bibliography that includes at least three references for at least two protective and two risk factors associated with your health topic or concern. The information for each topic cannot be from the same article. There should be a total of twelve articles reviewed.

Be sure to support your points for each of the components in parentheses with data from the program and outside research.

FYI Going forward support your points for each of the components in parentheses with data from the program and outside research. The quality and clarity of your writing is important to these assignments, particularly in a discussion format. You also need to be sure you are including references that support your position that are cited in the correct format.

PART 2 – BIO3344 – Discussion – 1pg

*NO Plagiarism NO copy paste- Stay on topic – Answer all questions- include references*

Genetic Variations

Research during the 1930s led to the discovery of an important region in human chromosomes known as the telomere. The enzyme telomerase enables the replacement of the telomere region in a chromosome. Assure Jane Marlow that gene testing or DNA testing has become a widely used tool to identify many disorders and can be a valuable tool for diagnosing conditions early on so that appropriate steps can be taken to prevent further risks of developing diseases. Address the following:

What is the function of telomeres with regard to cell division?

If a patient has an abnormality in telomerase activity, how might this contribute to cancer?

* Duchenne muscular dystrophy (DMD) is an X-linked disease for which prenatal diagnostic testing can be performed.

Has prenatal genetic testing increased the detection rate of this disease, compared to prior diagnostic methods?

If so, how? If not, why?

In case the fetus is diagnosed with DMD and parents decide to terminate the pregnancy, are there chances that the next child will also be a carrier of the disease?

* Jane Hill’s husband, Charlie Marlow, has hemophilia A when he marries Hill, who does not have the disorder. Jane’s parents also do not have hemophilia, but her brother Steve Hill does.

What is the probability that the Marlows’ son will have the disorder?

What is the probability that their daughter will have hemophilia?

Are there chances that their daughter will be a carrier of this disorder?

PART 3 BIO3344 – Project 3pgs – Case Studies

*NO Plagiarism NO copy paste- Stay on topic – Answer all questions- include references*

Beyond Mendel’s Laws * Long QT Syndrome

*QUESTIONS FOR RESEARCH AND DISCUSSION 

10. Discuss how incomplete penetrance, variable expressivity, pleiotropy, and genetic heterogeneity can affect the severity of a disease in a family. 

11. A person can lower risk of preventable types of cardiovascular disease by exercising regularly and following a diet low in saturated fats and simple carbohydrates and high in fruits and vegetables. Why are these approaches ineffective against long QT syndrome? 

12. Explain how the molecular bases of the various forms of long QT syndrome make genetic heterogeneity very likely.

CASE STUDY BELOW

Long QT Syndrome Roger Maxwell is very health-conscious. He runs, swims, and hikes; follows a low-carbohydrate diet; and generally feels great. He sees a physician when he needs to, in addition to annual physical exams at the large company where he is an engineer. He’d never allow himself to get so out of shape that heart disease would be a risk. Because of his strict adherence to this healthy lifestyle, Roger is surprised when a medical intern, gazing at his yearly electrocardiogram (ECG) at his work physical, clearly picks up on something. “What? What are you looking at?” Roger blurts out while buttoning up his shirt. “Oh, it’s probably nothing.” But she doesn’t look like it’s probably nothing. “The heart murmur? My mom’s been telling me about it since childhood. Not a big deal. The doctors called it something last year, something I never heard of.” “Did you check it out?” asks the intern. “Nah. It wasn’t bothering me, so I forgot about it. Why? What’s wrong?” “Well, maybe you should ask the doctor to explain it again and suggest what to do.” “About what?” “The doctor will explain it. Please don’t worry, though,” says the intern as she rushes off to the next patient. Roger’s electrocardiograms had in fact been showing that he has had long QT syndrome, and not a heart murmur, for many years. The doctor explains that this is a problem with the heart’s rhythm, and not its valves. Roger goes home and Googles long QT syndrome right away. What he finds concerns him enough to alert his relatives. Long QT syndrome is a lengthening in the time that it takes the ventricles (the lower two heart chambers) to recover after a contraction, called the QT interval on an electrocardiogram. This delay is called torsade de pointes, and it causes lightheadedness upon standing or even fainting, as blood pressure drops when the heart rhythm becomes abnormal. If the arrhythmia turns into the more erratic condition called ventricular fibrillation, it can be deadly. Some cases of sudden cardiac arrest in people who apparently do not have heart disease are in fact due to long QT syndrome. This may have been the case with Roger’s aunt, Amelia, his mother’s sister, who died at age 34 of what was thought to be a heart attack, but, now Roger realizes, was more likely an arrhythmia. Still, with only one affected relative, Roger had never thought of his aunt’s early demise as a family history, especially since his mother is healthy. Roger reads that in people with some forms of long QT syndrome, fatal arrhythmia can be triggered by intense emotions or a sudden loud sound. The first recorded case of the condition was a little girl, who collapsed dead when her teacher suddenly yelled at her. Her older brother had died in a similar circumstance. Suddenly, Roger remembers that his daughter Sheila faints very easily. She even passed out once at a rock concert because she got so excited. He’d never panicked over it because his mother fainted easily, too. A pattern was emerging. Long QT syndrome is caused by mutations in any of at least 10 genes that encode either proteins that form parts of ion channels (potassium, sodium, or calcium) or proteins that affect the functioning of these channels. Ion channels control the spread of nerve impulses and the resulting muscle contraction. The time for the heart’s recovery after a beat, called repolarization, extends the period when ions are trapped inside heart muscle cells because the channels are blocked, too slow to open, or too quick to close in people who are at elevated risk due to inheriting a mutation. People with long QT syndrome can experience arrhythmia if they take certain drugs that prolong the QT interval. These drugs include certain antibiotics, antidepressants, and diuretics (“water pills”). Roger reads about the different genes and drug combinations that cause long QT syndrome on Wikipedia, and then he scans www.genetests.org to find labs that test for all of them. Only then does he make an appointment with a cardiologist, and he arranges to have his blood and that of his daughter and mother sent to one of the labs. Two weeks later, he learns that they all have a dominant mutation in a gene called HERG (for “human ether-a-go-go”) that causes long QT syndrome type 2 (LQT2). Even healthy family members could have inherited the mutation, because 15 percent of people with long QT syndrome do not have symptoms. The concern is their increased risk of developing symptoms in the future—perhaps suddenly.