in Albinism:

- Define albinism in detail

- Name the categories of it

- Draw to compare the metabolic pathway between normal and patient with Albinism

Samantha, a 74-year-old woman with a history of rheumatic fever while in her twenties, presented to her physician with complaints of increasing shortness of breath ("dyspnea") upon exertion. She also noted that the typical swelling she's had in her ankles for years has started to get worse over the past two months, making it especially difficult to get her shoes on toward the end of the day. In the past week, she's had a decreased appetite, some nausea and vomiting, and tenderness in the right upper quadrant of the abdomen.On physical examination, Samantha's jugular veins were noticeably distended. Auscultation of the heart revealed a low-pitched, rumbling systolic murmur, heard best over the left upper sternal border. In addition, she had an extra, "S3" heart sound. A chest X-ray reveals a normal cardiac silhouette that is normal in diameter, but her physical examination reveals hepatomegaly and ascites, as well as pitting edema in her ankles. She is advised to wear support stockings and given a prescription for digoxin. Two weeks later she returns to the office for a follow-up visit; upon physical examination, she still has significant hepatomegaly and pitting edema, and is significantly hypertensive (i.e. she has high blood pressure). Her physician prescribes a diuretic called furosemide (or "Lasix").

1. What is causing the low-pitched, rumbling murmur (both in general and specific anatomical and physiological terms)? Why is it heard best over the left upper sternal border? Which valve is involved?

2. What is causing the "S3" heart sound? What portion of the cardiac cycle will it be heard in and why?

3. Is Samantha's history of rheumatic fever relevant to the current symptoms? Why or why not? What causes rheumatic fever and what might it cause in Samantha years after her infection? Why is the diagnosis of the specific valve involved in the systolic murmur important?

4. Does the normal diameter of the heart on X-ray rule out a possible cardiac diagnosis? What is meant by the term “concentric hypertrophy” and why might it be happening in Samantha’s heart?

5. What is meant by the terms “hepatomegaly” and “ascites” and why are they happening? Why are her jugular veins distended? Be specific in terms of blood pressure and Starling forces.

6. What is pitting edema and what is causing it?

7. Why is she advised to wear support stockings? If she had atherosclerosis or blockage of a femoral artery, would this be an advisable diagnosis? Why or why not?

8. Is the stress being placed on Samantha’s heart pre-load or after-load and why?

9. What is the general diagnosis for Samantha’s condition? What would the diagnosis be if there were pulmonary edema instead of systemic edema?

10. Why is Samantha started on digoxin? How does it work? State your answers in terms of chronotropism and inotropism, the Na+/K+ ATPase, cytoplasmic Ca++ concentrations, and the proteins in a cardiomyocyte’s sarcomere.

11. What happened to Samantha in the two weeks before her follow-up visit? In other words, how did her body begin to compensate for decreased stroke volume? Utilize cardiac output, sympathetic nervous system, vasoconstriction to “less vital” organs (including the kidney) the renin-angiotensin-aldosterone (R-A-A) axis, Angiotensin II, ADH, pre-load and after-load, the Frank-Starling law, and the actions of digoxin.

12. Why was she given Lasix medication, and how does it work?

WILLCOX, Ariz.— Ask Sam Lindsey about the importance of Northern Cochise Community Hospital and he’ll give you a wry grin. You might as well be asking the 77-year-old city councilman to choose between playing pickup basketball—as he still does most Fridays—and being planted six feet under the Arizona dust. Lindsey believes he’s above ground, and still playing point guard down at the Mormon church, because of Northern Cochise. Last Christmas, he suffered a severe stroke in his home. He survived, he said, because his wife, Zenita, got him to the hospital within minutes. If it hadn’t been there, she would have had to drive him 85 miles to Tucson Medical Center. There are approximately 2,300 rural hospitals in the U.S., most of them concentrated in the Midwest and the South. For a variety of reasons, many of them are struggling to survive. In the last five years, Congress has sharply reduced spending on Medicare, the federal health insurance program for the elderly, and the patients at rural hospitals tend to be older than those at urban or suburban ones. Rural hospitals in sparsely populated areas see fewer patients but still have to maintain emergency rooms and beds for acute care. They serve many people who are uninsured and can’t afford to pay for the services they receive. This copyrighted story comes from Stateline, the daily news service of the Pew Charitable Trusts. (Learn more about republishing Stateline content) Several months ago, Northern Cochise sought to strengthen its chances for survival by joining an alliance with Tucson Medical Center and three other rural hospitals in southwestern Arizona. Together, the Southern Arizona Hospital Alliance is negotiating better prices on supplies and services. And the Tucson hospital has promised to help its rural partners with medical training, information technology and doctor recruitment. “We are committed to remaining autonomous for as long as we can,” said Jared Wilhelm, director of community relations at Northern Cochise. “We think this gives us the best leverage to do so.” Northern Cochise and the other rural hospitals in the alliance, which is similar to ones in Kansas, Mississippi, Washington state and Wisconsin, hope that by joining they will avoid thefate of 56 rural hospitals that have closed since 2010. Another 283 rural hospitals are in danger of closing, according to the National Rural Health Association (NRHA). Right now, some Arizonans in the region are learning what it’s like to lose a hospital. Cochise Regional Hospital, in Douglas, near the Mexican border, closed earlier this month, following Medicare’s decision to terminate payments because of repeated violations of federal health and safety rules. The hospital was part of a Chicago-based chain and its closing leaves Arizona residents in the far southeastern portion of the state up to 75 miles away from the closest hospital emergency room. Sam Lindsey shudders to think what a long drive to Tucson would have meant for him last Christmas. “If I’d have had to go 85 miles,” he said, “I don’t think I’d be here today.” Multiple Advantages The alliance offers the rural members multiple advantages. One of the most important is in purchasing. Their combined size will enable them to get discounts that are beyond them now. For example, instead of being a lone, 49-bed hospital with limited bargaining leverage, alliance member Mount Graham Regional Medical Center, in Safford, is suddenly part of a purchasing entity with more than 700 beds. “If I’m just Mount Graham and I’m going to buy one MRI every seven years, the sales people will say, ‘Oh, that’s very nice,’ ” said Keith Bryce, Mount Graham’s chief financial officer. “But as part of this alliance that they want to do regular business with, they are going to give us a much better price.” Bryce said that he expects the added purchasing power alone will save Mount Graham “in the six figures” every year. Similarly, the hospitals expect the combined size of the alliance to result in lower costs for employee benefits, workers’ compensation and medical malpractice insurance. The alliance also helps the rural hospitals recruit doctors and other medical providers, many of whom are reluctant to work, let alone live, in isolated areas. Rural hospitals rarely have the contacts and relationships that help urban hospitals find doctors. “We’ve been trying to recruit another primary care doctor to this community for the last year with no success,” said Rich Polheber, CEO of Benson Hospital, another alliance member. Tucson Medical Center has pledged to use its own recruiting muscle to help its rural partners find providers who are willing to live in rural areas, or at least regularly see patients there. As an incentive, Tucson will offer interested doctors help in managing the business aspects of their practices. The rural alliance members also want Tucson’s help with medical training and IT. Some have dipped into telemedicine, which is particularly valuable for rural hospitals underserved by specialists, and are looking to expand those efforts. Copper Queen Community Hospital, in Bisbee, the fourth rural member of the alliance and probably the rural hospital in the best financial shape, is the most advanced user of telemedicine. Its networks in cardiology, neurology, pulmonology and radiology can connect doctors and their patients to specialists at major institutions such as the Mayo Clinic and St. Luke’s Medical Center, in Phoenix. The alliance also will make it easier for patients who have surgery in Tucson to be transferred back to their home hospitals for recovery and rehabilitation, saving them and their families from traveling long distances. A Defensive Strategy Despite the numerous advantages for the rural partners, the idea for the alliance began with the Tucson hospital, which approached the others with the proposal last spring. At the outset, some of the rural hospitals were skeptical. “At first, we were like, ‘OK, so why are they doing this? What’s in it for them? Do they want to absorb us?’ ” said Bryce, the Mount Graham CFO. But after a series of meetings, the suspicions disappeared and the rural hospitals eagerly signed on. The Tucson hospital was frank about its motivation: to remain independent in an industry moving toward consolidation. As a result of acquisitions in the last few years, it is the last locally owned, independent hospital in Tucson. “All of a sudden, we were in a situation where [Tucson Medical Center] found itself isolated and facing its own competitive market pressures because the environment had so dramatically changed,” said Susan Willis, executive director of market development at the hospital and president of the new alliance. Nearly a quarter of Tucson’s patients come from outside the city, many from the areas served by the rural hospitals in the new alliance. Cementing the relationship with those hospitals, Willis said, will help Tucson maintain a flow of patients who need medical services that are beyond the capabilities of the rural hospitals. The rural members have laboratories, diagnostic equipment and therapeutic services, but some have little or no surgical or obstetrical services. Not one is equipped to perform complicated surgeries. “Certainly you could describe it as a defensive strategy,” Willis said. Decades of Pressure Many of the problems plaguing rural hospitals date to 1983, when Medicare began paying hospitals a set fee for medical services and procedures rather than reimbursing them for the actual costs of providing that care. From 1983 to 1998, 440 rural hospitals closed in the U.S., according to the NRHA. That prompted Medicare to begin reimbursing certain rural hospitals for their actual costs, which helped stabilize them. But the recession hit rural hospitals especially hard, as did 2011 budget cuts that reduced Medicare payments by 2 percent. Because the rural population tends to be older, rural hospitals rely heavily on Medicare payments. The pressure increased in 2012, when the federal government reduced by 30 to 35 percent its reimbursements to hospitals for Medicare patients who don’t cover their share of the bill. “That’s an example of how a little policy change that seems insignificant in Washington can have profound effects in the rural areas,” said Brock Slabach, NHRA’s senior vice president for member services. Finally, more insurance plans are increasing copayments and other out-of-pocket costs. Many of the patients at rural hospitals have low incomes. And when they can’t cover their costs, the hospitals have to pick up the tab. “We don’t have cash reserves,” said Polheber, the Benson Hospital CEO. “We live on the edge, day to day, week to week. [The alliance] seemed like the best way to keep us going.” Given the threats to the nation’s rural hospitals, many are eager to learn from any models that work, which is why the Arizona alliance has attracted notice. Slabach, for one, calls it a promising model, although one that may not be replicable everywhere. “You have to have willing partners willing to collaborate and provide assistance to each other,” he said. “You need partners that share a cultural fit with you.” The rural members of the alliance are major employers in their communities and assets in attracting other employers and residents, including the snowbirds, who flock to the area every winter. But hospital leaders, workers and patients say saving lives is the main reason the hospitals must remain open. “In medicine, distance lessens the chances of survival,” said Pam Noland, director of nursing at Northern Cochise. “Even if a patient has to be transferred to [Tucson Medical Center] or somewhere else, stabilizing them here is the difference between life and death.”

1. Using 200-300 words, provide a summary of the article.  

2. What issue, concept, or section do you agree with and why?

3. What issue, concept, or section do you disagree with and why?

What do you think about kids drinking Gatorade? Gatorade has many uses that are necessary (certain duration of sporting events, acute cases of hypoglycemia). However, it may not always be necessary – especially with kids. Discuss your thoughts on this. If you would recommend it for certain situations, and why.

. Carlos and Maria feel blessed and are ecstatic to have two healthy babies. Within the first hour, the babies have been cleaned and measured and their heels pricked for blood samples. These initial blood tests are to assess for PKU, TH levels, cystic fibrosis, and several other metabolic disorders. To their surprise, their new daughter tests positive for PKU. Neither carlos nor Maria have PKU. Thankfully, their son tests negative for PKU. But as they are discussing genetic testing, Maria remembers that her father was color blind. She wonders whether that means her son will also be color blind. Carlos and Maria are so happy with their new twins that they are thinking about trying to have more children, maybe in a few years. a) What is the % chance their son will also have PKU? b) It won’t be possible to determine yet, but what are the % chances that Maria and Carlos’s son will be color blind? Explain briefly your reasoning. c) Having had one boy and a girl, what are Maria and Carlo’s chances of having another boy? Will the time of fertilization influence their chances of having a boy?

1. (3pts) How would you describe the condition of respiratory acidosis? What would be the response within the respiratory system to this condition? What would be the response of the urinary system to this condition?

2. (2pts) What are the major buffer systems in the body?

3. (3pts) As you’re probably aware the human body is approximately 60% (with large individual variation) water. How is water distributed within the body? Be sure to address where it is found, what differences exist between location, and what forces act on water within the body to cause it to change location.

4. (4pts) What are the sources of water gain and loss in the body? What are they for sodium? How are they connected?

5. (3pts) A person has a tumor in the adrenal cortex that continuously secretes large amounts of aldosterone. What effects does this have on the total amount of sodium and potassium in her body?

6. (3pts) Describe the detection of and response to low blood pressure in the body. Be sure to place this scenario into the context of a homeostatic mechanism, and clearly identify the structures that act as receptors, integrating center and effectors. You should identify specific mechanisms of reaction and the systems involved.

Discuss how the kidneys and the carotid body/aortic arch baroreceptors interact to regulate mean arterial pressure both on a minute-by-minute and long-term basis. Be sure to include the mechanisms that are involved in maintaining blood pressure homeostasis.

Consider the metabolic pathways involved in generating energy/ATP to support an athlete during a 400 m race vs a marathon event. Discuss the reasons why using a specific energy pathway is preferred, or is even possible, in the context of activity intensity and duration.

What is the role of tropomyosin in muscle contraction

Discuss the body’s short- and long-term responses to “stress”. Please be sure to include how these responses would assist the body/individual in coping with “stress” and how these physiologic processes may become detrimental under a chronic “stress” state.

PART 1: (select the correct bold-faced choices)

Glucose is freely ["secreted", "filtered", "excreted", "reabsorbed"] at the glomerulus, where it enters the tubule of the nephron. However, all of the glucose entering the nephron is normally ["secreted", "filtered", "excreted", "reabsorbed"] at the proximal convoluted tubule via the sodium-glucose co-transporter, which also reabsorbs Na⁺. Glucose is not ["secreted", "filtered", "excreted", "reabsorbed"] into the nephron tubule. Because of this, no glucose is ["secreted", "filtered", "excreted", "reabsorbed"] in a healthy individual.

PART 2: Why is protein not found normally found in the urine?

A. It is fully absorbed by the digestive system

B. It is 100% reabsorbed by the nephron

C. It is 100% secreted by the nephron

D. It is too large to be filtered

PART 1:  The FEV1/VC ratio is clinically significant because it is an indicator of ["alveolar surface area", "airway resistance", "alveolar pressure", "respiratory rate"] . A healthy individual's FEV1/VC ratio is near ["50%", "80%", "90%", "100%"], while an individual with an obstructive lung disease will likely have a FEV1/VC ratio of less than ["50%", "80%", "90%", "100%"] because of a ["decrease in resistance", "merging", "dilation", "collapsing"] of the small airways.

PART 2: Tidal volume increased after exercise because CO2 production ["increased", "decreased"]  owing to the increased metabolic rate of exercising skeletal muscle. This change in CO2 stimulated the ["peripheral", "central"] ["baroreceptors", "photoreceptors", "osmoreceptrs", "chemoreceptors"] resulting in ["faster", "slower"] and  ["shallower", "deeper"] breathing. As a result of the tidal volume increasing, inspiratory and expiratory volumes both ["significantly increased", "significantly decreased", "did not significantly change"] while vital capacity ["significantly increased", "significantly decreased", "did not significantly change"]. Since total lung capacity is equal to the vital capacity plus residual volume (which is a constant), total lung capacity  ["significantly increased", "significantly decreased", "did not significantly change"]      .

Please explain how each of the following systems would regain homeostasis when a patient is given anesthesia? (If they can/would be able to)

a) Endocrine system

b) Renal system

c) Digestive system

d) Respiratory system

2. Why would a clinician test reflex function? Do hypoactive reflexes indicate damage within the CNS or PNS? Do hyperactive reflexes indicate damage within the CNS or PNS?

6. In regard to a knee jerk reflex test (if you can’t picture it, look it up on youtube) a. Which nerve is being evaluated? Which muscles contract? b. What action occurs at the knee joint? c. Describe, in detail, the nerve pathway involved in this reflex.