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Disease: Organelle Case Studies
Transcript of Disease: Organelle Case Studies
Nicole has Leigh Syndrome (LS). Respiratory problems, decreased motor skills, increased plasma lactate and pyruvate levels, slowed development, and lesions on the brain stem are characteristic of LS. The mitochondrion in LS patients are dysfunctional, and LS is genetic (maternal, or X-linked). There is little hope for Nicole, as LS leads to death due to lower brain stem involvement. She will continue to get worse until she dies.
What symptoms does Nicole have?
A decrease in motor skills
Increased lactate levels in the plasma
Lesions on the brain stem
Vomiting and decreased appetite
- High concentration of oxidative enzymes in the blood
The young patient seem to be affected by Cystic Fibrosis(CF).CF is a genetic disease that affect more than 30,000 children and young adult in America. In order for a person to have CF, the gene has to inherit by both parents. The organelle effected is the Endoplasmic Reticulum.
Name - Unknown
Age- 6 years old
Gender - female
The patient is experiencing
extremely thick musoca
Bronchitis and Pneumonia
These are all symptoms of....
Case Studies of Organelle Diseases
-High lactic acid
Patient history: Full term infant with difficulty suckling response.
-Often was less in weight and height than supposed to be.
-Vision problems/droopy eyes
- Quickly winded and muscle cramping in gym class/ excersising
- Relatively high fatty acid levels (acids not being metabolized)
- missing an organelle approximately .5 microns in diameter
- Gout in hand and feet joints caused my the accumulation of uric acid
- Loss of feeling in lower back , not due to spinal fluid infection.
- Nerve cells not producing enough myelin.
Age- 4 Months
The mitochondria is not functioning which is causing the symptoms she is experiencing and has experienced throughout her childhood
Case 1 Sources
CF can lead to liver disease or gallstones. As CF patients age CF relate Diabetes appear, similar to type 1 and 2 diabetes. patients of CF have a life span of 40 years. The most common death is lung complications.
Cases in small children usually lead to death before the age of 16. If diagnosed as an adult you have a better chance of living longer.
There is no known cure.
There is no cure fo CF but Treatments include:
People with CF will have to take medicine that helps them maintain sugar.
Inhaled medication to clear airways. (thin mucuse, kill bacteria, and draw more water into the airway.)
CF patients are required to eat a diet of high calories and protein.
Multivitamins of A,D,E and K are important.
Chest Physical Therapy to dislodge the mucus in the lungs.
Breathing techinques to dislodge mucus.
Aerobic Exercise to improve lung function.
case 5 sources
Case 7 Sources
Case 3 Sources
- breaks down excess fatty acids with oxidative enzymes
- the accumulation of fatty acids can strip cells of myelin, in this case the nerve cells were stripped of this and unable to properly send signals, leading to loss of feeling.
- Genetic disorder more prominent in males
- Males are usually affected at an earlier age than women
It is likely that Sarah will die as there is no cure. There is a treatment that involves comsuming triglyceride from rapeseed oil, but this onlystalls symptoms.
Due to the advanced age at which she was afflicted, she won't die from the disease for several years since it advances at a slower rate than if she had it as a child.