University:
Rice University
Course:
EMSP 281 | Emt-B Intro To Emergency Care
Academic year:

2023
Views:

372

Pages:

1
Author:

Nesbyenvkk

LITTLE GIRL LOST QUESTIONS PART 1- Bringing Home Baby Questions 1. The phrase “failure to thrive” is the inability to grow or gain weight as a newborn. 2. Some reasons why newborn babies fail to thrive are an unhealthy environment or genetic defects. 3. She developed a severe respiratory infection that brought about her deterioration. 4. Since Nicole exhibited symptoms uncharacteristic of a respiratory infection, such as vomiting and inability to gain weight, her parents brought her to the hospital. At the hospital, the doctors noticed Nicole had decreased muscle tone and a seizure. 5. The preliminary test on Nicole revealed she had elevated plasma lactate and pyruvate levels. The MRI showed discrete bilaterally symmetric lesions in the basal ganglia and brainstem. PART 2- The Diagnosis Questions 1. Nicole was diagnosed with Leigh Syndrome (LS). Most cases of LS are associated with a nuclear mutation in the SURF1 gene. 2. It would affect the mitochondria. 3. LS affects approximately one in 36,000 to 40,000 newborns. 4. The expected lifespan is about 2 years. 5. Her parents are carriers and the gene for LS is recessive. Nicole was unlucky enough to inherit the defective genes from both parents. 6. There is a ¼ chance they would have another affected child. There is a 2/4 or ½ chance they would have another carrier child. 7. The probability of having an unaffected child that does not carry the gene is ¼. PART 3- Understanding the Cell Questions 1. Mitochondria are responsible for energy production in the cell. 2. The cell and organism will deteriorate, become nonfunctional, and die. 3. Given that the cells of an organism function as a factory, and each organelle contributes to a comprehensive working body, the failure of the mitochondria would result in the collapse of the productivity of the entire cell, leading to deterioration and death. PART 4- Treatment and Prognosis Questions 1. Genetic testing would determine which mutation she has, making it easier to forecast how quickly the disease will progress. 2. The primary treatment for LS includes thiamine or Vitamin B1 supplements. It is more about mitigating the symptoms than curing the disease, since there is no cure.